Individual Contributors

Our contributors form a global community passionate about enabling responsible data sharing.

Anyone working in genomics and related fields is invited to participate in our inclusive and collaborative community. We bring together several hundred contributors from all over the world, and from academia, healthcare, patient advocacy, life sciences, information technology, industry, and other backgrounds. All work to create standards, frameworks, and tools that expand responsible, effective, and democratised use of genomic and clinical data.

There are many ways to contribute to GA4GH...

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Name

Organisation

Products

Roles and Work Streams

Colman O'Cathail
EMBL's European Bioinformatics Institute (EBI)
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
DNAstack
Data Repository Service (DRS), htsget, refget, RNAget, Workflow Execution Service (WES)
Cloud Work Stream, Large-Scale Genomics (LSG) Work Stream
Samson Adegbe
GeneMap Africa
EDI Advisory Board
Wellcome Sanger Institute (WSI)
Diversity in Datasets
Regulatory & Ethics Work Stream (REWS)
David Altshuler
Vertex Pharmaceuticals
Emeritus
Wellcome Sanger Institute (WSI)
Staff
Peter Amstutz
Curii
Workflow Execution Service (WES)
Cloud Work Stream
Corina Antonescu
Matchmaker Exchange
Assigned Expert
Irina Armean
EMBL's European Bioinformatics Institute (EBI)
Variant Annotation (VA)
Genomic Knowledge Standards (GKS) Work Stream
Ministerio de Ciencia, Tecnología e Innovación
Data Privacy and Security Policy, Framework for responsible sharing of genomic and health-related data, GDPR & International Health Data Sharing Forum
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Navneet Aujla
Mount Sinai Hospital
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Monash University Malaysia
Data Privacy and Security Policy, Your DNA, Your Say (Participant Values Survey)
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Priya Ayyappaswamy
McGill University / Université McGill
Staff
Larry Babb
Broad Institute of MIT and Harvard
Variation Representation (VRS), Variant Annotation (VA), Categorical Variation (CatVar)
Assigned Expert, Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
University of Mauritius
refget, Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
EDI Advisory Board, Large-Scale Genomics (LSG) Work Stream
Salem Bajjali
Mayo Clinic
Genomic Knowledge Standards (GKS) Work Stream
Dixie Baker
Martin, Blanck and Associates
Authorisation and Authentication Infrastructure (AAI), Beacon, Cloud Security and Privacy, Data Privacy and Security Policy, Data Security Infrastructure Policy (DSIP), Data Use Ontology (DUO), Framework for responsible sharing of genomic and health-related data, GDPR & International Health Data Sharing Forum, Genetic Data Encryption (Crypt4GH), Risk Assessment Methodology for Software Stacks
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Emeritus, Large-Scale Genomics (LSG) Work Stream, Regulatory & Ethics Work Stream (REWS)
DNAstack
Authorisation and Authentication Infrastructure (AAI), Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
University of Zurich
Authorisation and Authentication Infrastructure (AAI), Beacon, Clinical Data Sharing and Consent, Data Connect, Data Use Ontology (DUO), GDPR & International Health Data Sharing Forum, Genetic Variation Formats (VCF), Phenopackets, Variant Annotation (VA)
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream, Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Michael Beauvais
University of Toronto
Regulatory & Ethics Work Stream (REWS)
Université de Lausanne
Phenopackets, Variant Annotation (VA)
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Genomic Knowledge Standards (GKS) Work Stream
Anja Bedeker
South African National Bioinformatics Institute, Public Health Alliance for Genomic Epidemiology (PHA4GE)
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Regulatory & Ethics Work Stream (REWS)
Edmon Begoli
Oak Ridge National Laboratory (ORNL)
htsget
Large-Scale Genomics (LSG) Work Stream
Sergi Beltran
CNAG CRG
Beacon, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Discovery Work Stream, Standards Steering Committee
Instituto de Salud Carlos III
Ethics Review Recognition Policy
Regulatory & Ethics Work Stream (REWS)
David Bernick
Broad Institute of MIT and Harvard
Authorisation and Authentication Infrastructure (AAI), Data Privacy and Security Policy, Data Security Infrastructure Policy (DSIP), Passports, Bad Actors in Research Environments (BARE)
Standards Steering Committee
Alexander Bernier
McGill University / Université McGill
GDPR & International Health Data Sharing Forum
Regulatory & Ethics Work Stream (REWS)
Nicolas Bertin
Genome Institute of Singapore
WGS Quality Control Standards
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
F. Hoffmann-La Roche
Standards Steering Committee
Graham Binns
Genomics England
Standards Steering Committee
Ewan Birney
European Molecular Biology Laboratory (EMBL), EMBL's European Bioinformatics Institute (EBI)
Board of Directors, Executive Leadership
Laura Biven
National Institutes of Health (NIH)
Standards Steering Committee
Daniela Bodemer
Melbourne Genomics Health Alliance
Clinical Data Sharing and Consent
Regulatory & Ethics Work Stream (REWS)
University of Toronto, Unity Health Toronto
Genetic Discrimination Toolkit, Policy on Clinically Actionable Genomic Research Results, Public Attitudes for Genomic Policy — Blog Posts
Regulatory & Ethics Work Stream (REWS)
James Bonfield
Wellcome Sanger Institute (WSI)
CRAM, Genetic Variation Formats (VCF)
Large-Scale Genomics (LSG) Work Stream
Tiffany Boughtwood
Australian Genomics
Data Use Ontology (DUO), Machine Readable Consent Guidance (MRCG)
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
McGill University / Université McGill
Beacon, Data Use Ontology (DUO), RNAget
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Large-Scale Genomics (LSG) Work Stream, Standards Steering Committee
Sarion Bowers
Wellcome Sanger Institute (WSI)
Data Use Ontology (DUO), Passports
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
RTI International
Data Access Committee Review Standards (DACReS) Toolkit, Data Use Ontology (DUO), Passports
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
Steven Brenner
University of California, Berkeley
Authorisation and Authentication Infrastructure (AAI), Variant Annotation (VA), Variation Representation (VRS)
Data Security Work Stream, Genomic Knowledge Standards (GKS) Work Stream
Anthony Brookes
University of Leicester
Standards Steering Committee
Amy Brower
UNMC Munroe-Meyer Institute
Standards Steering Committee
Gemma Brown
Wellcome Sanger Institute (WSI)
Ethical Provenance Toolkit, Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Regulatory & Ethics Work Stream (REWS), Staff
University Health Network
Beacon, Data Use Ontology (DUO), Passports, GDPR & International Health Data Sharing Forum, Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Matt Brush
Oregon Health & Science University
Variant Annotation (VA)
Genomic Knowledge Standards (GKS) Work Stream
McGill University / Université McGill
Beacon, Phenopackets, RNAget
Large-Scale Genomics (LSG) Work Stream, Standards Steering Committee
EMBL's European Bioinformatics Institute (EBI)
Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream, Standards Steering Committee
Regina Bures
National Institutes of Health (NIH)
Standards Steering Committee
PhenoTips
Pedigree, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Rebekah Butterfield
Oracle Corporation, University of West Florida
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Luke Buttigieg
Genomics England
Assigned Expert
Dominik František Bučík
ELIXIR Cloud and AAI
Standards Steering Committee
Moran Cabili
Foundation Medicine, Inc.
Data Use Ontology (DUO), Passports
Data Use & Researcher Identity (DURI) Work Stream
Daniel Cameron
Walter and Eliza Hall Institute of Medical Research
CRAM, Genetic Variation Formats (VCF), Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Salvador Capella-Gutierrez
Barcelona Supercomputing Center
Authorisation and Authentication Infrastructure (AAI), Beacon, Passports, Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream, Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream
Knox Carey
Intertrust Technologies Corporation
Authorisation and Authentication Infrastructure (AAI), Beacon, Data Privacy and Security Policy, Data Security Infrastructure Policy (DSIP), Framework for responsible sharing of genomic and health-related data, Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Regulatory & Ethics Work Stream (REWS)
NIH National Cancer Institute (NCI)
Clinical Data Sharing and Consent, Framework for responsible sharing of genomic and health-related data
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Timothe Cezard
EMBL's European Bioinformatics Institute (EBI)
Genetic Variation Formats (VCF), refget
Large-Scale Genomics (LSG) Work Stream
Subhashini Chandrasekharan
National Institutes of Health (NIH)
Policy on Clinically Actionable Genomic Research Results
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Bimal Chaudhari
Nationwide Children’s Hospital
Variation Representation (VRS)
Dashrath Chauhan
EMBL's European Bioinformatics Institute (EBI)
Data Repository Service (DRS), Workflow Execution Service (WES)
Cloud Work Stream, Staff
Shu Hui Chen
NIH National Heart, Lung, and Blood Institute (NHLBI)
Clinical Data Sharing and Consent, Consent Policy, CRAM, Data Connect, Data Privacy and Security Policy, Data Use Ontology (DUO), Diversity in Datasets, Ethics Review Recognition Policy, Passports, Genetic Discrimination Toolkit, Policy on Clinically Actionable Genomic Research Results
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, EDI Advisory Board, Large-Scale Genomics (LSG) Work Stream, Regulatory & Ethics Work Stream (REWS)
Chen Chen
Ontario Institute for Cancer Research (OICR)
Staff
University of Utah
Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream
Justina Chung
Ontario Institute for Cancer Research (OICR)
Staff
Johns Hopkins University School of Medicine
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Melissa Cline
University of California, Santa Cruz
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
Hayley Clissold
Wellcome Sanger Institute (WSI)
Data Access Committee Review Standards (DACReS) Toolkit, Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
Independent Contributor
CRAM
Large-Scale Genomics (LSG) Work Stream
Geoff Coles
Genomics England
Assigned Expert
Francis Collins
National Institutes of Health (NIH)
Emeritus
Ed Conley
The Farr Institute
Family History Toolkit
Thomas Conner
Broad Institute of MIT and Harvard
Authorisation and Authentication Infrastructure (AAI), Passports, Risk Assessment Methodology for Software Stacks
Data Security Work Stream, Staff
Ontario Institute for Cancer Research (OICR)
Data Use Ontology (DUO), Passports, Machine Readable Consent Guidance (MRCG), Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream, EDI Advisory Board, Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Katrin Crameri
SIB Swiss Institute of Bioinformatics
Standards Steering Committee
Karen Cranston
University Health Network, Canadian Distributed Infrastructure for Genomics (CanDIG)
Standards Steering Committee
Francis P. Crawley
Strategic Initiative for Developing Capacity in Ethical Review (SIDCER), Good Clinical Practice Alliance (GCPA)
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Heather Creasy
National Cancer Institute Cancer Research Data Commons (NCI CRDC)
Assigned Expert, Standards Steering Committee
Miro Cupak
DNAstack
Beacon, Data Connect, Service Info, Service Registry
Discovery Work Stream
University of Leicester
Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Sanjay Dave
Hemchandracharya North Guarat University
EDI Advisory Board
Tanja Davidsen
National Institutes of Health (NIH)
Standards Steering Committee
Wellcome Sanger Institute (WSI)
CRAM, Genetic Data Encryption (Crypt4GH), Genetic Variation Formats (VCF), htsget, refget, SAM/BAM
Large-Scale Genomics (LSG) Work Stream
Universitat Politecnica de Catalunya (UPC)
Authorisation and Authentication Infrastructure (AAI), Cloud Security and Privacy, Data Privacy and Security Policy, Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Susan Desmond-Hellmann
Bill & Melinda Gates Foundation
Emeritus
Thijs Devriendt
KU Leuven
Clinical Data Sharing and Consent, Data Access Committee Review Standards (DACReS) Toolkit
Regulatory & Ethics Work Stream (REWS)
Valentina Di Francesco
National Institutes of Health (NIH)
Standards Steering Committee
Megan Doerr
Sage Bionetworks
Clinical Data Sharing and Consent, Consent Policy, Data Use Ontology (DUO), Diversity in Datasets, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Passports, Genetic Discrimination Toolkit, Pedigree, Framework for responsible sharing of genomic and health-related data, Family History Toolkit
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
Progress and Health Foundation
Beacon, Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations, Tool Registry Service (TRS)
Discovery Work Stream, Regulatory & Ethics Work Stream (REWS)
Edward Dove
University of Edinburgh
Ethics Review Recognition Policy
Regulatory & Ethics Work Stream (REWS)
Richard Durbin
University of Cambridge
Genetic Variation Formats (VCF), SAM/BAM
Emeritus, Large-Scale Genomics (LSG) Work Stream
Michael Duyzend
Broad Institute of MIT and Harvard
Standards Steering Committee
Sage Bionetworks
Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream
Karen EIlbeck
University of Utah
Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream
Kyle Ellrott
Oregon Health & Science University
Task Execution Service (TES)
Cloud Work Stream
Shahim Essaid
University of Colorado Anschutz Medical Campus
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Susan Fairley
EMBL's European Bioinformatics Institute (EBI)
Executive Leadership, Staff
Hamad Bin Khalifa University
EDI Advisory Board
Aida Beatriz Falcon de Vargas
Hospital Vargas de Caracas
Clinical Data Sharing and Consent, Ethics Review Recognition Policy, Policy on Clinically Actionable Genomic Research Results, Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
EDI Advisory Board
Lady Davis Institute
Browser Extensible Data (BED), Genetic Variation Formats (VCF)
Large-Scale Genomics (LSG) Work Stream
Jeremy Farrar
Wellcome
Emeritus
Arwa Farrukh
Ontario Institute for Cancer Research (OICR)
Staff
Digital Alchemy
Consent Policy, Data Privacy and Security Policy, GDPR & International Health Data Sharing Forum, Variant Annotation (VA)
Genomic Knowledge Standards (GKS) Work Stream, Regulatory & Ethics Work Stream (REWS)
Bingjian Feng
University of Utah
Pedigree
Emre Ferhatoglu
Ontario Institute for Cancer Research (OICR)
Kyle Ferriter
Broad Institute of MIT and Harvard
Data Repository Service (DRS), Task Execution Service (TES), Variant Annotation (VA), Variation Representation (VRS), Workflow Execution Service (WES)
Cloud Work Stream, Genomic Knowledge Standards (GKS) Work Stream
DNAstack
Authorisation and Authentication Infrastructure (AAI), Beacon, Data Connect, Data Repository Service (DRS), Data Use Ontology (DUO), Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations, Service Info, Service Registry, Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream, Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Regulatory & Ethics Work Stream (REWS)
Paul Flicek
University of Cambridge
Beacon, Data Privacy and Security Policy
Data Security Work Stream, Discovery Work Stream
Magnus Fontes
Institut Roche
Standards Steering Committee
Ian Fore
NIH National Center for Biotechnology Information (NCBI)
Data Connect, Data Repository Service (DRS), Passports, Service Registry, Workflow Execution Service (WES)
Cloud Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Standards Steering Committee
Marcia Fournier
National Institutes of Health (NIH)
Standards Steering Committee
Mallory Freeberg
EMBL's European Bioinformatics Institute (EBI)
Data Use Ontology (DUO), Passports, Genetic Variation Formats (VCF), htsget, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Large-Scale Genomics (LSG) Work Stream, Standards Steering Committee
Mayo Clinic
Data Use Ontology (DUO), Phenopackets, Sequence Annotation (SA), Variant Annotation (VA), Variation Representation (VRS)
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
Lauren Fromont
Centre for Genomic Regulation
Beacon
Assigned Expert, Discovery Work Stream
Jonathan Fuerth
DNAstack
Data Connect
Discovery Work Stream
Melbourne Genomics Health Alliance
Clinical Data Sharing and Consent, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Framework for responsible sharing of genomic and health-related data, Machine Readable Consent Guidance (MRCG), Policy on Clinically Actionable Genomic Research Results
Regulatory & Ethics Work Stream (REWS)
Weiniu Gan
NIH National Heart, Lung, and Blood Institute (NHLBI)
Core Funders Forum, Standards Steering Committee
Google Summer of Code
Task Execution Service (TES)
Cloud Work Stream
Institut Pasteur de Tunis
Genetic Variation Formats (VCF), Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations, Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream, Regulatory & Ethics Work Stream (REWS)
Kaushik Ghose
Seven Bridges Genomics, Inc.
Variant Benchmarking Tools
Jessica Giordano
Columbia University Irving Medical Center
Standards Steering Committee
David Glazer
Verily
Workflow Execution Service (WES), Task Execution Service (TES), Tool Registry Service (TRS), Data Repository Service (DRS), Data Connect, Passports, htsget
Cloud Work Stream, Standards Steering Committee
Institute for Systems Biology
Beacon
Discovery Work Stream
Wesley Goar
Nationwide Children’s Hospital
Variation Representation (VRS)
Assigned Expert, Genomic Knowledge Standards (GKS) Work Stream
Ontario Institute for Cancer Research (OICR)
Board of Directors, Executive Leadership, Staff
Connor Graham
Broad Institute of MIT and Harvard
Staff
Robert Green
Broad Institute of MIT and Harvard, Harvard Medical School, Mass General Brigham
Policy on Clinically Actionable Genomic Research Results
Regulatory & Ethics Work Stream (REWS)
Ian Green
SNOMED International
Clinical Data Sharing and Consent, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Jeff Greenberg
Kaiser Permanente
Family History Toolkit
Romain Gregoire
Canadian Centre for Computational Genomics
RNAget
Large-Scale Genomics (LSG) Work Stream
Susan Gregurick
NIH Office of Data Science Strategy (ODSS)
Obi Griffith
The Genome Institute at Washington University
Standards Steering Committee
The Genome Institute at Washington University
Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
Robert Grossman
University of Chicago
Standards Steering Committee
Tudor Groza
EMBL's European Bioinformatics Institute (EBI)
Clinical Data Sharing and Consent, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
NIH National Cancer Institute (NCI)
Consent Policy, Data Access Committee Review Standards (DACReS) Toolkit, Data Use Ontology (DUO), Passports, Machine Readable Consent Guidance (MRCG)
Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Centre for Genomic Regulation
RNAget, Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Sveinung Gundersen
Centre for Bioinformatics, University of Oslo
refget
Large-Scale Genomics (LSG) Work Stream
Vivek Gupta
Macquarie University
Clinical Data Sharing and Consent
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Melissa Haendel
University of Colorado Anschutz Medical Campus
Beacon, Clinical Data Sharing and Consent, Data Use Ontology (DUO), Pedigree, Phenopackets, Variant Annotation (VA), Variation Representation (VRS)
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
Benjamin Haibe-Kains
University of Toronto
Standards Steering Committee
Sam Halabi
Georgetown University, O’Neill Institute for National & Global Health Law
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Institut Pasteur de Tunis
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Genetic Discrimination Toolkit, Your DNA, Your Say (Participant Values Survey), SAM/BAM
Large-Scale Genomics (LSG) Work Stream, Regulatory & Ethics Work Stream (REWS)
Ada Hamosh
Johns Hopkins University School of Medicine
Standards Steering Committee
Deanne Hanchant-Nichols
University of South Africa
EDI Advisory Board
David Hansen
CSIRO
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Standards Steering Committee
Christian Happi
Redeemer’s University
Board of Directors
MyOme
refget, Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Dean Hartley
Autism Speaks
Authorisation and Authentication Infrastructure (AAI), Beacon, Data Connect, Passports, Workflow Execution Service (WES)
Standards Steering Committee
Muhammad Haseeb
EMBL's European Bioinformatics Institute (EBI)
CRAM, refget
Large-Scale Genomics (LSG) Work Stream
David Haussler
University of California, Santa Cruz
Emeritus
Children's Hospital of Philadelphia
Authorisation and Authentication Infrastructure (AAI), Data Repository Service (DRS), Pedigree, Phenopackets
Arthur Hermann
Kaiser Permanente
Clinical Data Sharing and Consent, Consent Policy, Pedigree, Phenopackets
Stanford University
Diversity in Datasets
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Ben Hitz
Stanford University
RNAget
Ashley Hobb
DNAstack
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
EDI Advisory Board
Michael Hoffman
Princess Margaret Cancer Centre
Browser Extensible Data (BED), Clinical Data Sharing and Consent, Framework for responsible sharing of genomic and health-related data, SAM/BAM
Large-Scale Genomics (LSG) Work Stream, Regulatory & Ethics Work Stream (REWS)
University of Melbourne Centre for Cancer Research
Browser Extensible Data (BED), Genetic Data Encryption (Crypt4GH), htsget, refget, WGS Quality Control Standards
Large-Scale Genomics (LSG) Work Stream, Standards Steering Committee
National Taiwan University
Diversity in Datasets, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
EPFL
Cloud Security and Privacy, Data Privacy and Security Policy
Data Security Work Stream, Emeritus
Thomas Hudson
Abbvie
Emeritus
Liane Hughes
Science for Life Laboratory (SciLifeLab)
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Ammar Husami
Cincinnati Children's Hospital Medical Center
Genetic Variation Formats (VCF), Variant Annotation (VA)
Amalia Issa
McGill University / Université McGill
Ethics Review Recognition Policy, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
TrakGene
Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Wellcome Sanger Institute (WSI)
htsget
Large-Scale Genomics (LSG) Work Stream
Jules Jacobsen
Queen Mary University of London
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Sumit Jamuar
Global Gene Corp
Beacon, Diversity in Datasets
Discovery Work Stream, Regulatory & Ethics Work Stream (REWS)
KK Women's and Children's Hospital
Beacon, Clinical Data Sharing and Consent, Data Access Committee Review Standards (DACReS) Toolkit, Diversity in Datasets, Framework for responsible sharing of genomic and health-related data, Genetic Discrimination Toolkit
Discovery Work Stream, Regulatory & Ethics Work Stream (REWS)
Datadex
Data Use Ontology (DUO), Passports
Data Use & Researcher Identity (DURI) Work Stream
Ginkgo Bioworks
Variant Annotation (VA), Variant Benchmarking Tools
Gerardo Jiménez Sánchez
Genómica y Bioeconomía A.C.
Board of Directors
ICGC ARGO
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Standards Steering Committee
Centre of Genomics and Policy
Clinical Data Sharing and Consent, Data Access Committee Review Standards (DACReS) Toolkit, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, GDPR & International Health Data Sharing Forum, Genetic Discrimination Toolkit, Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Steven Jones
Canada's Michael Smith Genome Sciences Centre
Standards Steering Committee
Beatrice Kaiser
McGill University / Université McGill, Centre of Genomics and Policy
Genetic Discrimination Toolkit, Genetic Discrimination: Implications for Data Sharing Projects, Diversity in Datasets, Clinical Data Sharing and Consent
Regulatory & Ethics Work Stream (REWS), Staff
Alexander Kanitz
University of Basel
Data Repository Service (DRS), Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES)
Standards Steering Committee
Masato Kasuga
Japan Agency for Medical Research and Development (AMED)
Standards Steering Committee
Thomas Keane
EMBL's European Bioinformatics Institute (EBI)
Large-Scale Genomics (LSG) Work Stream, Standards Steering Committee
Stephen Keenan
Wellcome Sanger Institute (WSI)
Variant Benchmarking Tools
University of Oxford
htsget
Large-Scale Genomics (LSG) Work Stream
Shona Kerr
MRC Human Genetics Unit
Policy on Clinically Actionable Genomic Research Results
Regulatory & Ethics Work Stream (REWS)
ELIXIR
Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream, Standards Steering Committee
National Center for Global Health and Medicine
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Centre of Genomics and Policy, McGill University / Université McGill
Board of Directors
Ada Health
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Melissa Konopko
ELIXIR
Authorisation and Authentication Infrastructure (AAI), Data Use Ontology (DUO), Variation Representation (VRS)
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, EDI Advisory Board, EDI Leadership, Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
Kenjiro Kosaki
Keio University
Standards Steering Committee
Ashok Krishnamurthy
RENCI
Standards Steering Committee
Peter Krusche
Novartis
Variant Benchmarking Tools
Martin Kuba
Masaryk University, ELIXIR Cloud and AAI
Authorisation and Authentication Infrastructure (AAI), Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Standards Steering Committee
Yasmeen Kurdi
Ontario Institute for Cancer Research (OICR)
Staff
Nationwide Children’s Hospital
Variation Representation (VRS)
Assigned Expert, Genomic Knowledge Standards (GKS) Work Stream
Kristina Kékesi-Lafrance
CIUSSS de l'Ouest-de-l'Île-de-Montréal
Regulatory & Ethics Work Stream (REWS)
Sweta Ladwa
National Institutes of Health (NIH)
Standards Steering Committee
Eric Lander
Broad Institute of MIT and Harvard
Emeritus
Guida Landoure
University of Sciences, Techniques and Technologies of Bamako (USTTB)
Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Jonathan Lawson
Broad Institute of MIT and Harvard
Data Use Ontology (DUO), Data Access Committee Review Standards (DACReS) Toolkit
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Heather Lawson
The Genome Institute at Washington University
Sequencing.com
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Rasko Leinonen
EMBL's European Bioinformatics Institute (EBI)
refget
Large-Scale Genomics (LSG) Work Stream
Jordan Lerner-Ellis
Mount Sinai Hospital
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Christa Lese Martin
Geisinger Health System
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Anders Leung
Independent Contributor
htsget
Large-Scale Genomics (LSG) Work Stream
Harvard University
Diversity in Datasets, Policy on Clinically Actionable Genomic Research Results
Stephanie Li
Broad Institute of MIT and Harvard
Staff
Fabio Liberante
Wellcome Sanger Institute (WSI)
Authorisation and Authentication Infrastructure (AAI), Passports
Data Use & Researcher Identity (DURI) Work Stream
Mike Lin
Independent Contributor
htsget
Large-Scale Genomics (LSG) Work Stream
Dana-Farber Cancer Institute
Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
University of Adelaide, Telethon Kids Institute
EDI Advisory Board
Christopher Llanwarne
Broad Institute of MIT and Harvard
Workflow Execution Service (WES)
Cloud Work Stream
Zane Lombard
University of the Witwatersrand, National Health Laboratory Service
Clinical Data Sharing and Consent, Diversity in Datasets, Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Regulatory & Ethics Work Stream (REWS)
Javier Lopez
Genomics England
Variant Annotation (VA)
Genomic Knowledge Standards (GKS) Work Stream
Anna Lu
NIH National Cancer Institute (NCI)
Variation Representation (VRS)
Michael Lukowski
University of Chicago
Data Repository Service (DRS)
Cloud Work Stream, Standards Steering Committee
Cameron MacPherson
Immunotherapy Centers of Research Excellence (imCORE®)
Standards Steering Committee
Mavis Machirori
Ada Lovelace Institute
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Regulatory & Ethics Work Stream (REWS)
Genomics England
Diversity in Datasets
Regulatory & Ethics Work Stream (REWS)
Patrick Magee
DNAstack
Beacon, Data Repository Service (DRS), Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream, Discovery Work Stream
Fraunhofer Institute for Biomedical Engineering
Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream
Radhika Mahajan
Mount Sinai Hospital
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Marko Malenic
Australian Genomics
Assigned Expert
NIH National Center for Biotechnology Information (NCBI)
Phenopackets
Venkat Malladi
Microsoft
Task Execution Service (TES), Workflow Execution Service (WES)
Cloud Work Stream
Alice Mann
Wellcome Sanger Institute (WSI)
Authorisation and Authentication Infrastructure (AAI), Beacon, Data Connect, Data Repository Service (DRS), Data Use Ontology (DUO), Passports, Machine Readable Consent Guidance (MRCG)
John Marshall
University of Glasgow
Browser Extensible Data (BED), CRAM, Genetic Data Encryption (Crypt4GH), Genetic Variation Formats (VCF), htsget, refget, Sequence Annotation (SA), SAM/BAM
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Renan Martin
Matchmaker Exchange
Assigned Expert
Mogomotsi Matshaba
Botswana-Baylor Children's Clinical Centre of Excellence
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Michele Mattioni
Seven Bridges Genomics, Inc.
Data Repository Service (DRS)
John Mattison
Kaiser Permanente
Family History Toolkit
Mamana Mbiyavanga
University of Cape Town
Beacon, Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Discovery Work Stream, Standards Steering Committee
John McDermott
Manchester University NHS Foundation Trust
Pharmacogenomics Data Standardisation
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Genomic Knowledge Standards (GKS) Work Stream
Matt McLoughlin
Microsoft
Task Execution Service (TES)
Cloud Work Stream
Instituto Nacional de Medicina Genómica
EDI Advisory Board
Arshiya Merchant
Beacon, CRAM, Data Access Committee Review Standards (DACReS) Toolkit
Wellcome Connecting Science, Wellcome Genome Campus
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Public Attitudes for Genomic Policy — Blog Posts, Your DNA, Your Say (Participant Values Survey)
Karen Miga
University of California, Santa Cruz
Richard Milne
Wellcome Connecting Science, Wellcome Genome Campus
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Policy on Clinically Actionable Genomic Research Results, Public Attitudes for Genomic Policy — Blog Posts, Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations, Your DNA, Your Say (Participant Values Survey)
Regulatory & Ethics Work Stream (REWS)
Amreen Mohamed
Ontario Institute for Cancer Research (OICR)
Staff
Heidelberg University
GDPR & International Health Data Sharing Forum
Regulatory & Ethics Work Stream (REWS)
Mizuki Morita
Okayama University
Data Use Ontology (DUO), Machine Readable Consent Guidance (MRCG)
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
Tom Morris
Curoverse, Inc.
Variant Benchmarking Tools
University of Edinburgh
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Eric Moyer
NIH National Center for Biotechnology Information (NCBI)
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Nicola Mulder
University of Cape Town
Data Use Ontology (DUO)
Board of Directors, Data Use & Researcher Identity (DURI) Work Stream, Standards Steering Committee
Laboratoire de génétique médicale (UMR_S 1112)
Beacon, Data Use Ontology (DUO), Sequence Annotation (SA)
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Genomic Knowledge Standards (GKS) Work Stream
University of Colorado Anschutz Medical Campus
Pedigree, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Standards Steering Committee
Medical Univerisity Graz
Beacon, Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream
Madeleine Murtagh
University of Glasgow
Cloud Security and Privacy, Data Access Committee Review Standards (DACReS) Toolkit, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Regulatory & Ethics Work Stream (REWS)
Takudzwa Nyasha Musarurwa
University of Cape Town
Assigned Expert
Anjene Musick
All of Us Research Program
Standards Steering Committee
Satoshi Nagaie
Tohoku University Tohoku, Medical Megabank Organization
Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream
Hidewaki Nakagawa
RIKEN Center for Integrative Medical Sciences
Board of Directors, Standards Steering Committee
Jamal Nasir
University of Northampton
Data Privacy and Security Policy, Data Use Ontology (DUO), Passports, Genetic Discrimination Toolkit, Your DNA, Your Say (Participant Values Survey)
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
Arcadi Navarro
ENA / EVA / EGA
Standards Steering Committee
Tristan Nelson
Geisinger Health System
Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
National Cancer Centre Singapore
Clinical Data Sharing and Consent, Consent Policy
Regulatory & Ethics Work Stream (REWS)
University of Tasmania
Ethics Review Recognition Policy, Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Pilar Nicolas
Independent Contributor, University of the Basque Country
Consent Policy, Data Privacy and Security Policy, Ethics Review Recognition Policy, GDPR & International Health Data Sharing Forum, Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations
Regulatory & Ethics Work Stream (REWS)
Lunds Universitet
Your DNA, Your Say (Participant Values Survey)
Regulatory & Ethics Work Stream (REWS)
Kathryn North
Murdoch Children's Research Institute, Australian Genomics
Board of Directors, Executive Leadership, NIF Leadership
Ann Novakowski
Sage Bionetworks
Data Access Committee Review Standards (DACReS) Toolkit
Vivek Nuthalapati
Epic Systems
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
CSC – IT CENTER FOR SCIENCE
Authorisation and Authentication Infrastructure (AAI), Data Use Ontology (DUO), Passports, GDPR & International Health Data Sharing Forum, Framework for responsible sharing of genomic and health-related data, Machine Readable Consent Guidance (MRCG), Workflow Execution Service (WES)
Cloud Work Stream, Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS), Standards Steering Committee
Brian O’Connor
Sage Bionetworks
Data Repository Service (DRS), Tool Registry Service (TRS), Task Execution Service (TES), Workflow Execution Service (WES), Passports, Service Info, Service Registry
Cloud Work Stream, Standards Steering Committee
SIB Swiss Institute of Bioinformatics
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Standards Steering Committee
Soichi Ogishima
Tohoku University Tohoku, Medical Megabank Organization
Data Use Ontology (DUO), Machine Readable Consent Guidance (MRCG), Pedigree, Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Lucila Ohno-Machado
University of California San Diego
Bad Actors in Research Environments (BARE)
Data Security Work Stream, Standards Steering Committee
Adeleke University, Helix Biogen Institute
EDI Advisory Board
Julia Ostmann
Broad Institute of MIT and Harvard
Staff
Francis Ouellette
McGill University / Université McGill
Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream
Broad Institute of MIT and Harvard
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Executive Leadership, Staff
Spherical Cow Group
Data Use Ontology (DUO), Passports
Data Use & Researcher Identity (DURI) Work Stream, EDI Advisory Board, EDI Leadership, Standards Steering Committee
Rahel Paloots
University of Zurich
Beacon, Variant Annotation (VA)
Discovery Work Stream, Genomic Knowledge Standards (GKS) Work Stream
NIH National Heart, Lung, and Blood Institute (NHLBI)
Consent Policy, Data Access Committee Review Standards (DACReS) Toolkit, Data Use Ontology (DUO)
Regulatory & Ethics Work Stream (REWS)
Emilio Palumbo
Centre for Genomic Regulation
RNAget
Large-Scale Genomics (LSG) Work Stream
Lee Pang
Amazon Web Services, Ltd. (AWS)
Workflow Execution Service (WES)
Cloud Work Stream
Milan Panik
DNAstack
Service Info, Service Registry
Discovery Work Stream
Helen Parkinson
EMBL's European Bioinformatics Institute (EBI)
Data Use Ontology (DUO), Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Wellcome Connecting Science, Wellcome Genome Campus
Clinical Data Sharing and Consent, Consent Policy, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Framework for responsible sharing of genomic and health-related data, Policy on Clinically Actionable Genomic Research Results, Your DNA, Your Say (Participant Values Survey)
Regulatory & Ethics Work Stream (REWS)
Tony Patelunas
Seven Bridges Genomics, Inc.
Standards Steering Committee
Andrew Patterson
University of Melbourne Centre for Cancer Research
Passports
Assigned Expert
Jimmy Payyappilly
EMBL's European Bioinformatics Institute (EBI)
Passports, Authorisation and Authentication Infrastructure (AAI), Data Repository Service (DRS), Workflow Execution Service (WES), Data Connect
Staff
Anthony Philippakis
Broad Institute of MIT and Harvard
Standards Steering Committee
Amicia Phillips
KU Leuven
Consent Policy
Sharon Plon
Baylor College of Medicine
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Regulatory & Ethics Work Stream (REWS)
Martin Pollard
Wellcome Sanger Institute (WSI)
CRAM, Genetic Data Encryption (Crypt4GH), Genetic Variation Formats (VCF), SAM/BAM
Large-Scale Genomics (LSG) Work Stream
University of Vienna
Your DNA, Your Say (Participant Values Survey)
Invitae, Inc.
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Freddie Pruitt
NIH National Cancer Institute (NCI)
EDI Advisory Board
Yasasvini Puligundla
Broad Institute of MIT and Harvard
htsget
Staff
Daniel Puthawala
Nationwide Children’s Hospital
Categorical Variation (CatVar)
Genomic Knowledge Standards (GKS) Work Stream
Aleksandra Radovanovic
Verily
Passports
Baylor College of Medicine
Data Access Committee Review Standards (DACReS) Toolkit, Ethical Provenance Toolkit, Ethics Review Recognition Policy
Regulatory & Ethics Work Stream (REWS)
Lausanne University Hospital
Data Privacy and Security Policy
Regulatory & Ethics Work Stream (REWS)
Jordi Rambla
Centre for Genomic Regulation
Beacon
Discovery Work Stream, Standards Steering Committee
John Randell
Human Cell Atlas
Standards Steering Committee
Shaikh Farhan Rashid
University Health Network, Canadian Distributed Infrastructure for Genomics (CanDIG)
Data Repository Service (DRS), htsget, Workflow Execution Service (WES)
Cloud Work Stream, Large-Scale Genomics (LSG) Work Stream
Maili Raven-Adams
The Nuffield Council on Bioethics
Clinical Data Sharing and Consent, Data Access Committee Review Standards (DACReS) Toolkit, Diversity in Datasets, Ethical Provenance Toolkit, Genetic Discrimination Toolkit, Public Attitudes for Genomic Policy — Blog Posts
Regulatory & Ethics Work Stream (REWS)
Massachusetts General Hospital, Broad Institute of MIT and Harvard
Variant Annotation (VA), Variation Representation (VRS)
Board of Directors, Executive Leadership, Genomic Knowledge Standards (GKS) Work Stream
Kathy Reinold
Independent Contributor
Data Connect, Data Use Ontology (DUO), Passports, Data Model and Schema Consensus (DaMaSC)
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream
Genomics England
Beacon, htsget, Pedigree
Standards Steering Committee
Renee Rider
NIH National Human Genome Research Institute (NHGRI)
Clinical Data Sharing and Consent
Regulatory & Ethics Work Stream (REWS)
Kevin Riehle
Baylor College of Medicine
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Emilio Righi
Centre for Genomic Regulation
RNAget, Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Graham Ritchie
Genomics England
Assigned Expert
Peter Robinson
The Jackson Laboratory
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Standards Steering Committee
Kurt Rodarmer
Independent Contributor
Authorisation and Authentication Infrastructure (AAI), Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Laura Lyman Rodriguez
Patient-Centered Outcomes Research Institute (PCORI)
Data Access Committee Review Standards (DACReS) Toolkit, Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream
Pedro Rondot Radío
Angel H. Roffo Institute of Oncology
Clinical Data Sharing and Consent, Consent Policy, GDPR & International Health Data Sharing Forum, Policy on Clinically Actionable Genomic Research Results, Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation
Regulatory & Ethics Work Stream (REWS)
Alan Rubin
Walter and Eliza Hall Institute of Medical Research
Variant Annotation (VA), Variation Representation (VRS)
Manuel Rueda
Centro Nacional de Análisis Genómico (CNAG)
Beacon
Discovery Work Stream
Healthfox US Inc
Clinical Data Sharing and Consent, Consent Policy, Data Privacy and Security Policy, Genetic Discrimination Toolkit
Regulatory & Ethics Work Stream (REWS)
Alham Saadat
Broad Institute of MIT and Harvard
Diversity in Datasets
Seven Bridges Genomics, Inc.
Data Repository Service (DRS)
Cloud Work Stream
Swayamsiddha Sahoo
Institute of Resource Development and Social Management
Your DNA, Your Say (Participant Values Survey), Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Regulatory & Ethics Work Stream (REWS)
Sarah Salahi
Broad Institute of MIT and Harvard
Workflow Execution Service (WES)
Cloud Work Stream
Victor San Kho Lin
Australian Genomics
Assigned Expert
Chris Sander
Dana-Farber Cancer Institute
GDPR & International Health Data Sharing Forum
Regulatory & Ethics Work Stream (REWS)
Juliann Savatt
Geisinger Health System
Charles Sawyers
Memorial Sloan Kettering Cancer Center
Emeritus
Owen Schaefer
National University of Singapore (NUS)
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Hasso Plattner Institute for Digital Engineering
Data Access Committee Review Standards (DACReS) Toolkit, Ethics Review Recognition Policy
Regulatory & Ethics Work Stream (REWS)
Steve Scherer
The Hospital for Sick Children
Serena Scollen
Standards Steering Committee
Richard Scott
Genomics England
NIF Leadership
Jessica Seegobin
Ontario Institute for Cancer Research (OICR)
Data Security Work Stream, Regulatory & Ethics Work Stream (REWS), Staff
Alexander Senf
Congenica
Genetic Data Encryption (Crypt4GH)
Large-Scale Genomics (LSG) Work Stream
Broad Institute of MIT and Harvard, Massachusetts Institute of Technology, Ragon Institute of MGH, MIT and Harvard
EDI Advisory Board
Videha Sharma
Manchester University
Pharmacogenomics Data Standardisation
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Genomic Knowledge Standards (GKS) Work Stream
Nathan Sheffield
University of Virginia
refget
Large-Scale Genomics (LSG) Work Stream
Sikha Singh
Association of Public Health Laboratories
Diversity in Datasets, Your DNA, Your Say (Participant Values Survey)
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Babita Singh
Centre for Genomic Regulation
Beacon, Phenopackets
NIH Office of Data Science Strategy (ODSS)
Authorisation and Authentication Infrastructure (AAI), Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Neerjah Skantharajah
Ontario Institute for Cancer Research (OICR)
Staff
Lindsay Smith
The Hospital for Sick Children
Anastasia Smith
Nationwide Children’s Hospital
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Albert Smith
University of Michigan
Genetic Variation Formats (VCF)
Large-Scale Genomics (LSG) Work Stream, Standards Steering Committee
Nara Sobreira
Johns Hopkins University School of Medicine
Data Connect
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Standards Steering Committee
Kayla Socarras
Broad Institute of MIT and Harvard, Matchmaker Exchange
Assigned Expert
Heidi Sofia
NIH National Human Genome Research Institute (NHGRI)
Authorisation and Authentication Infrastructure (AAI), Cloud Security and Privacy, Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Dmitriy Sonkin
NIH National Cancer Institute (NCI)
Sequence Annotation (SA), Variant Annotation (VA)
Genomic Knowledge Standards (GKS) Work Stream
Dylan Spalding
CSC – IT CENTER FOR SCIENCE
Authorisation and Authentication Infrastructure (AAI), Beacon, Data Use Ontology (DUO), Passports, Phenopackets
Amanda Spurdle
QIMR Berghofer Medical Research Institute
Pedigree, Policy on Clinically Actionable Genomic Research Results
Standards Steering Committee
Nationwide Children’s Hospital
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Zornitza Stark
Australian Genomics
Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Lincoln Stein
Ontario Institute for Cancer Research (OICR), ICGC ARGO
Standards Steering Committee
University of California, Santa Cruz
Data Repository Service (DRS), Sequence Annotation (SA), Service Info, Service Registry, Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream, Discovery Work Stream, Genomic Knowledge Standards (GKS) Work Stream
James Stevenson
Nationwide Children’s Hospital
Variation Representation (VRS)
Assigned Expert, Genomic Knowledge Standards (GKS) Work Stream
Michael Stratton
Wellcome Sanger Institute (WSI)
Emeritus
Alex Stuckey
Genomics England
Assigned Expert
Jing Su
Wellcome Sanger Institute (WSI)
Cloud Security and Privacy, Genetic Variation Formats (VCF), Variant Annotation (VA), Variation Representation (VRS)
Data Security Work Stream, Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Christine Suver
Sage Bionetworks
Data Access Committee Review Standards (DACReS) Toolkit
Data Use & Researcher Identity (DURI) Work Stream
University Medical Center Groningen
Beacon, Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream
David Tamborero
Karolinska Institutet
Variant Annotation (VA)
Genomic Knowledge Standards (GKS) Work Stream
Authorisation and Authentication Infrastructure (AAI), Data Repository Service (DRS), Passports, Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream, Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Standards Steering Committee
Garvan Institute of Medical Research
Public Attitudes for Genomic Policy — Blog Posts
Genetic Alliance
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Framework for responsible sharing of genomic and health-related data
Regulatory & Ethics Work Stream (REWS)
Donrich Thaldar
University of KwaZulu-Natal
Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Reggan Thomas
EMBL's European Bioinformatics Institute (EBI)
refget
Staff
Mrinal Thomas
Epic Systems
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Alastair Thomson
NIH National Heart, Lung, and Blood Institute (NHLBI)
Standards Steering Committee
Adrian Thorogood
Terry Fox Research Institute
Clinical Data Sharing and Consent, Cloud Security and Privacy, Consent Policy, Data Access Committee Review Standards (DACReS) Toolkit, Data Use Ontology (DUO), GDPR & International Health Data Sharing Forum, Machine Readable Consent Guidance (MRCG), Policy on Clinically Actionable Genomic Research Results, Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations, Your DNA, Your Say (Participant Values Survey)
Timothy Tickle
Broad Institute of MIT and Harvard, Human Cell Atlas
Ellen Todres
Human Cell Atlas
Standards Steering Committee
Juha Tornroos
ELIXIR Beacon, CSC – IT CENTER FOR SCIENCE
Standards Steering Committee
David Torrents
Barcelona Supercomputing Center
Framework for Involving and Engaging Participants, Patients, and Publics in Genomics Research and Health Implementation, Framework for responsible sharing of genomic and health-related data
Standards Steering Committee
Len Trigg
Real Time Genomics
Variant Benchmarking Tools
Alex Tsai
Ontario Institute for Cancer Research (OICR)
Staff
Emma Tudini
Australian Genomics
Clinical Data Sharing and Consent
Regulatory & Ethics Work Stream (REWS)
Ilia Tulchinsky
Alphabet
Data Use Ontology (DUO), Passports
Data Use & Researcher Identity (DURI) Work Stream
Jon Turner
Wellcome Sanger Institute (WSI)
Staff
Diya Uberoi
McGill University / Université McGill, Centre of Genomics and Policy
Genetic Discrimination Toolkit, Genetic Discrimination: Implications for Data Sharing Projects, Diversity in Datasets, Ethical Preparedness for Pandemics and Epidemics (EPPE) Framework
Regulatory & Ethics Work Stream (REWS), Staff
Sean Upchurch
California Institute of Technology
RNAget, Sequence Annotation (SA)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Alfonso Valencia
Barcelona Supercomputing Center
Standards Steering Committee
University of Melbourne Centre for Cancer Research
htsget
Assigned Expert, Large-Scale Genomics (LSG) Work Stream
TrakGene
Pedigree
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Geraldine Van der Auwera
Independent Contributor
Standards Steering Committee
Information Commissioner's Office
Beacon, Data Repository Service (DRS), Data Use Ontology (DUO), GDPR & International Health Data Sharing Forum, Passports, Phenopackets, Service Registry, Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES), Machine Readable Consent Guidance (MRCG), Framework for responsible sharing of genomic and health-related data
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Cloud Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream, Regulatory & Ethics Work Stream (REWS)
Harold Varmus
Weill Cornell Medical College of Cornell University
Emeritus
Colin Veal
University of Leicester
Beacon
Discovery Work Stream
Danya Vears
Murdoch Children's Research Institute
Policy on Clinically Actionable Genomic Research Results, Your DNA, Your Say (Participant Values Survey)
Regulatory & Ethics Work Stream (REWS)
Aarti Venkat
University of Chicago
Standards Steering Committee
Broad Institute of MIT and Harvard
Authorisation and Authentication Infrastructure (AAI), Data Repository Service (DRS), Passports
Cloud Work Stream, Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream
Vanessa Vogel-Farley
RARE-X
Clinical Data Sharing and Consent, Data Use Ontology (DUO)
Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
Craig Voisin
Google LLC
Authorisation and Authentication Infrastructure (AAI), Data Use Ontology (DUO), Framework for responsible sharing of genomic and health-related data, Passports
Data Security Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Regulatory & Ethics Work Stream (REWS)
The Ohio State University College of Medicine, Nationwide Children’s Hospital
Variation Representation (VRS), Categorical Variation (CatVar)
Assigned Expert, Genomic Knowledge Standards (GKS) Work Stream, Standards Steering Committee
Susan E. Wallace
University of Leicester
Consent Policy
Regulatory & Ethics Work Stream (REWS)
Brian Walsh
Knight Diagnostic Laboratories, Oregon Health & Science University
Beacon, Data Repository Service (DRS), Variant Annotation (VA), Variation Representation (VRS)
Ronald Wapner
Columbia University Irving Medical Center
Standards Steering Committee
Jason Williams
Cold Spring Harbor Laboratory
EDI Advisory Board
German Cancer Research Center (DKFZ) / National Center for Tumor Diseases (NCT)
Clinical Data Sharing and Consent, Consent Policy, Data Privacy and Security Policy, Ethics Review Recognition Policy, Framework for responsible sharing of genomic and health-related data, Policy on Clinically Actionable Genomic Research Results
Regulatory & Ethics Work Stream (REWS)
Ingrid Winship
The Royal Melbourne Hospital
Family History Toolkit
MyGenomeTrust
Pedigree, Phenopackets, Family History Toolkit
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Yasuhide Yamada
National Center for Global Health and Medicine
Clinical Data Sharing and Consent
EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
National Institute of Biomedical Innovation, Health and Nutrition (NIBIOHN)
Data Use Ontology (DUO), Machine Readable Consent Guidance (MRCG)
Data Use & Researcher Identity (DURI) Work Stream
Ye Yan
NIH National Heart, Lung, and Blood Institute (NHLBI), Trans-Omics for Precision Medicine (TOPMed)
Data Access Committee Review Standards (DACReS) Toolkit
Data Use & Researcher Identity (DURI) Work Stream, EDI Advisory Board, Regulatory & Ethics Work Stream (REWS)
Ziying Yang
University of Zurich
Genetic Variation Formats (VCF), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
EMBL's European Bioinformatics Institute (EBI)
Browser Extensible Data (BED), RNAget, Sequence Annotation (SA), Service Info, Service Registry, Variant Annotation (VA), Variation Representation (VRS), refget
EDI Advisory Board, Standards Steering Committee
Denis Yuen
Ontario Institute for Cancer Research (OICR)
Data Repository Service (DRS), Tool Registry Service (TRS), Workflow Execution Service (WES)
Cloud Work Stream
Ontario Institute for Cancer Research (OICR), Indoc Research
Beacon, Data Repository Service (DRS), Data Use Ontology (DUO), Passports, Phenopackets, Task Execution Service (TES), Tool Registry Service (TRS), Workflow Execution Service (WES)
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Cloud Work Stream, Data Use & Researcher Identity (DURI) Work Stream, Discovery Work Stream
Canadian Centre for Computational Genomics, McGill University / Université McGill
Phenopackets
Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream
Zhenyu Zhang
University of Chicago
RNAget, Variant Annotation (VA), Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Hangjia Zhao
University of Zurich
Variation Representation (VRS)
Genomic Knowledge Standards (GKS) Work Stream
Justin Zook
National Institute of Standards and Technology
Variant Benchmarking Tools
Joeri van der Velde
University Medical Center Groningen
Beacon
Discovery Work Stream

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