New GIAB preprint about HG008 assembly and new benchmarks

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Zook, Justin M. (Fed)

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May 9, 2026, 10:19:46 AM (13 days ago) May 9
to GIAB Analysis Team

Dear GIAB,

We are excited we have released a new preprint at https://doi.org/10.64898/2026.05.01.722316, where we developed somatic benchmarks for somatic SNVs, indels, SVs, and CNVs from a complete, haplotype-resolved assembly of the HG008 pancreatic cancer cell line’s genome. This is GIAB’s first public draft benchmark for truncal/clonal somatic SNVs and indels, and we have added VNTRs and subclonal SVs to the v0.5 SV benchmark. Let us know if you have feedback about these benchmarks!

If you’d like to sequence the HG008-T tumor cell line yourself, it is now available as ATCC CRL-3734.

Links to HG008 benchmarks, data, and publications are at: https://www.nist.gov/programs-projects/cancer-genome-bottle

Thanks to many of you in GIAB who contributed to this effort!
Justin


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