Draft somatic SV benchmark and no GIAB call today

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Zook, Justin M. (Fed)

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Jan 20, 2025, 12:45:22 PMJan 20
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Dear GIAB Analysis Team,

 

We won’t have our regular GIAB call today due to the US holiday.

 

We are excited to release the v0.2 draft somatic clonal SV benchmark for HG008, along with a README describing how it was created and how to use it with truvari 5.0. which now can compare BND calls in a sophisticated way. These benchmarks are on the ftp at https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/data_somatic/HG008/Liss_lab/analy[…]IST_HG008-T_somatic-stvar_DraftBenchmark_V0.2-20250110/. Thanks all for your contributions, and please let us know if you find any issues or have suggestions for improving future versions! We release early draft benchmarks like this to get feedback from the community, so look at it critically. We are thinking a next step may be to add somatic CNA/CNV calls that correspond to the SV breakpoints, so if you have new CNA calls to contribute, this is a great time.

 

Thanks!

Justin

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