Genomic Knowledge Standards (GKS) Work StreamWhen a doctor worries their patient might have a genetic disease, they can test a person’s genome to find differences (variants) which might cause the disease. The sheer number of variants a person has — around 5 million on average — presents a significant challenge in finding out which variants may impact their clinical care. Even computers struggle to run searches for clinically-important variants because there is no standard language for describing the evidence needed.
The Genomic Knowledge Standards (GKS) Work Stream works to define a common language for computers to describe variants — and the important biomedical knowledge associated with them — that may affect clinical care. As a result, GKS makes it easier for laboratories, researchers, and hospitals to find this information and improve patient health outcomes.
Getting involved with the Genomic Knowledge Standards (GKS) Work Stream
Join us in developing the language and models for sharing genomic
knowledge! We host several initiatives:
Announcements
Standardises the exchange of genomic knowledge through common APIs, schemas, and software. Enables interoperability between diagnostic laboratories, electronic health records, researchers, and knowledge bases — leading to better health outcomes.
Products
File formats
Genomic knowledge models (GKM)
Sequence Annotation (SA)
Aims to develop an extensible, common model for describing genomic features
Quality control
Publications
Documents
Videos
| Date | Title | |
|---|---|---|
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19 November 2025 | GKS Work Stream Open House (November 2025) |
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6 January 2025 | GKS Work Stream Open House (January 2025) |
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29 June 2022 | VRS tutorials: an introduction to the GA4GH Variation Representation Specification |
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7 June 2021 | VRS webinar (Genomics in Health Implementation Forum) |
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24 September 2020 | GA4GH 8th Plenary: Genomic Knowledge Standards Work Stream 2020 Update |
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4 June 2020 | Evidence and provenance for Variant Annotations |
Contributors
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Get in touch- Larry BabbGenomic Knowledge Standards (GKS) Work Stream LeadBroad Institute of MIT and Harvard, Cambridge, US
- Melissa ClineGenomic Knowledge Standards (GKS) Work Stream LeadUniversity of California, Santa Cruz, Santa Cruz
- Alex WagnerGenomic Knowledge Standards (GKS) Work Stream LeadNationwide Children’s Hospital, Columbus, OH, Variant Interpretation for Cancer Consortium (VICC), International
- Irina ArmeanEMBL's European Bioinformatics Institute (EBI), Hinxton, UK
- Salem BajjaliMayo Clinic, Rochester
- Michael BaudisUniversity of Zurich, Zurich
- Jacqui BeckmannUniversité de Lausanne
- Nicolas BertinGenome Institute of Singapore, Singapore
- Steven BrennerUniversity of California, Berkeley, Berkely
- Matt BrushOregon Health & Science University, Portland
- Daniel CameronIllumina, Inc., San Diego
- Evan ChristensenUniversity of Utah, Salt Lake City
- Raymond DalgleishUniversity of Leicester, Leicester, UK
- Karen EilbeckUniversity of Utah, Salt Lake City
- Ramon FelcianoDigital Alchemy
- Kyle FerriterBroad Institute of MIT and Harvard, Cambridge, US
- Robert FreimuthMayo Clinic, Rochester
- Kais GhediraInstitut Pasteur de Tunis
- Wesley GoarNationwide Children’s Hospital, Columbus, OH
- Malachi GriffithThe Genome Institute at Washington University, Saint Louis, Variant Interpretation for Cancer Consortium (VICC), International
- Roderic GuigoCentre for Genomic Regulation, Barcelona
- Melissa HaendelUNC School of Medicine
- Reece HartMyOme
- Seik-Soon KhorNational Center for Global Health and Medicine
- Melissa KonopkoELIXIR, International
- Kori KuzmaNationwide Children’s Hospital, Columbus, OH
- Jennifer LeeSequencing.com, https://sequencing.com
- Christa Lese MartinGeisinger Health System, Danville
- Xuelu (Jeff) LiuDana-Farber Cancer Institute, Boston
- Javier LopezGenomics England
- John MarshallCentre for Population Genomics
- John McDermottManchester University NHS Foundation Trust
- Sean MckenzieOxford Nanopore Technologies
- Eric MoyerNIH National Center for Biotechnology Information (NCBI)
- Jean MullerLaboratoire de génétique médicale (UMR_S 1112)
- Tristan NelsonGeisinger Health System, Danville
- Vivek NuthalapatiEpic Systems
- Francis OuelletteMcGill University / Université McGill, Montréal, Canada
- Rahel PalootsUniversity of Zurich, Zurich
- Bala PeriaswamyOxford Nanopore Technologies Singapore
- Andreas PrlićInvitae, Inc., San Francisco
- Daniel PuthawalaNationwide Children’s Hospital, Columbus, OH
- Heidi RehmMassachusetts General Hospital, Boston, Broad Institute of MIT and Harvard, Cambridge, US
- Kevin RiehleBaylor College of Medicine
- Emilio RighiCentre for Genomic Regulation, Barcelona
- Billy RowellPacific Biosciences, Menlo Park
- Videha SharmaManchester University
- Anastasia SmithNationwide Children’s Hospital, Columbus, OH
- Dmitriy SonkinNIH National Cancer Institute (NCI), Bethesda
- Kathryn StahlNationwide Children’s Hospital, Columbus, OH
- David SteinbergUniversity of California, Santa Cruz, Santa Cruz
- James StevensonNationwide Children’s Hospital, Columbus, OH
- Jing SuWellcome Sanger Institute (WSI), Hinxton, UK
- David TamboreroKarolinska Institutet
- Mrinal ThomasEpic Systems
- Sean UpchurchCalifornia Institute of Technology, Pasadena
- Ziying YangUniversity of Zurich, Zurich
- Zhenyu ZhangUniversity of Chicago, Chicago
- Hangjia ZhaoUniversity of Zurich, Zurich
