The Platinum Pedigree: a long-read benchmark for genetic variants.

已完结 10 由 dcd 发布于 2025/8/26 10:44:37

DOI:10.1038/s41592-025-02750-y
作者：Zev Kronenberg,?Cillian Nolan,?David Porubsky,?Tom Mokveld,?William J Rowell,?Sangjin Lee,?Egor Dolzhenko,?Pi-Chuan Chang,?James M Holt,?Christopher T Saunders,?Nathan D Olson,?Cody J Steely,?Sean McG
文献类型：期刊论文
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Nature

Abstract：Recent advances in genome sequencing have improved variant calling in complex regions of the human genome. However, it is difficult to quantify variant calling performance because existing s

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