GIAB Structural Variant Benchmark Set Manuscript on Biorxiv

[Zook, Justin (Fed)]

Dear GIAB,

 

We’re very happy to announce we’ve made available a preprint of our manuscript about our v0.6 benchmark SV set for the GIAB/PGP Ashkenazi son (HG002) at https://doi.org/10.1101/664623. Thanks very much to all of you who have contributed to this resource over the past several years.  As with all the GIAB benchmark sets, please let us know if you identify any issues with benchmark set or manuscript or places where they could be improved.  We are actively working on improving this benchmark, including refining our integration methods, adding new analysis methods and data types to expand to more challenging SVs, and making benchmark sets for GRCh37 and GRCh38 for all GIAB genomes.  We currently have a request for new SV callsets and diploid assemblies by June 17.

 

Thank you again to the entire GIAB community for making this possible!

Justin