The Genome Reference Consortium (GRC) is a collaboration between the EMBL-EBI, NCBI, Wellcome Trust Sanger Institute, and Genome Institute at Washington University. They are responsible for maintaining the human, mouse and zebrafish reference genome assemblies that you can see in Ensembl, including updating to new assemblies such as the new human assembly GRCh38. They have also been developing methods that allow for the representation of different sequence paths for loci where allelic diversity is needed (PLoS Biol. 2011 Jul:9(7):e1001091).
The GRC would like to invite you to a highly technical workshop, which is planned for the morning of Sunday 21st September. The workshop will be chaired by the Wellcome Trust Sanger Institute’s Richard Durbin and Deanna Church from Personalis. Members of the GRC will present and discuss a range of topics including:
- Alignment/Mapping tools for using the full assembly: distinguishing allelic duplication from paralogous duplication.
- Representing alignment data in BAM files.
- Variant calling.
- Representing variant calls in VCF (or other formats).
- Reporting results to users in biological friendly ways.
- Relationship to parallel interests in the Global Alliance for Genomics and Health (GA4GH) Data Working Group.
The GRC workshop is open to everybody, not just Genome Informatics conference attendees. The workshop is free to attend, but there are limited places so please register if you’d like to come along.