New GIAB benchmark manuscripts now online!

[Zook, Justin M. (Fed)]

Dear Genome in a Bottle Consortium,

 

We are excited that several GIAB manuscripts have been recently published or made available as preprints:

 

1. New preprint about our v4 benchmarks for small variants, expanding to many challenging regions including difficult genes of clinical interest like PMS2: https://doi.org/10.1101/2020.07.24.212712
2. Nature Biotechnology publication about our first structural variant benchmark released in 2019: https://rdcu.be/b4UMa
3. PLoS Computational Biology publication about our set of crowd-sourced, expert-curated structural variants: https://doi.org/10.1371/journal.pcbi.1007933

 

Thank you to all who contributed to GIAB discussions and to these publications, and we look forward to continuing to work with many of you as we continue to develop assembly-based benchmarks for challenging genes, regions, and variants.

 

Cheers,

Justin