GIAB Updates and Call Recording

[Zook, Justin M. (Fed)]

Dear GIAB,

 

Thanks to all who joined the GIAB call today about HG008 data – if you weren’t able to join, a link to the recording and slides are at the bottom of https://docs.google.com/document/d/18iedHRpmMbdKksiMFfwf3n5O3CpPECzU1VESzmcnXEk/edit?usp=sharing. As always, you can find links to HG008 data in the data manifest at https://www.nist.gov/programs-projects/cancer-genome-bottle.

 

A few updates:

1. Our Aug 19 call will be cancelled while I am on vacation, and Sept 2 will be cancelled due to Labor Day, but you will need to remove these from your calendars if they are there.
2. We have updated draft small variant and SV benchmarks for HG002 on GRCh37, GRCh38, and CHM13v2.0, based on the HG002-Q100v1.1 assembly, with refined exclusions to remove potential assembly errors. https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/data/AshkenazimTrio/analysis/NIST_HG002_DraftBenchmark_defrabbV0.018-20240716/. The README contains updated instructions for benchmarking, which is particularly important for SVs.
3. We have updated stratification bed files to v3.5, which now includes stratifications for the HG002-Q100v1.0 assembled haplotypes https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/release/genome-stratifications/v3.5/

 

Thanks to many who contributed to this work, and enjoy the rest of the summer!

Justin Zook, on behalf of the NIST GIAB Team