refget Sequences

The first step of any genomic analysis is mapping the new sequence data to a reference sequence — a list of three billion base pairs that have been generally accepted as “normal” for a given population or subgroup. However, standard conventions for naming and identifying reference sequences are lacking. Different organisations refer to the same sequence differently. refget Sequences provides a framework to retrieve reference sequences by using an algorithm to derive a unique identifier. The identifier can then be used to verify the integrity of the reference sequence.

All sequencing-based genomic analysis uses a genomic reference sequence — a baseline of knowledge against which variations are observed. There are multiple human reference sequences of increasing accuracy. For example, two organisations may refer to the same sequence using different names, or reuse names to refer to different reference releases. Reliable, reproducible genomic analysis depends on clear provenance back to reference data. Refget Sequences enables access to reference genomic sequences without ambiguity from different databases and servers using a checksum identifier based on the sequence content itself.

A companion tool to refget Sequences, refget Sequence Collections assigns a name for a collection of reference sequences.