New draft GIAB HG002 tandem repeat benchmark

[Zook, Justin M. (Fed)]

Dear GIAB,

 

Adam English and Fritz Sedlazeck have been co-leading our GIAB team working on a benchmark and benchmarking tools that are specifically designed for tandem repeats, as they presented on a GIAB call earlier this year, and we are excited to have a draft HG002 benchmark for indels >=5bp in size in tandem repeats (including STRs and VNTRs). Before finalizing the benchmark, we’d be very happy for you to try using this and send us any feedback about how this is useful and any places you find that might be incorrect. 

 

You can find the v6.26 benchmark vcf and bed, and more information about how we created the benchmark and how to use it at https://github.com/ACEnglish/adotto/. Please send any feedback to me and Fritz and Adam, cc’d, or open an issue/discussion on the github page.

 

Thanks!

Justin, Adam, and Fritz