Article
The Platinum Pedigree: a long-read benchmark for genetic variants.
Nature methods - 1 Aug 2025
Kronenberg Zev, Nolan Cillian, Porubsky David, Mokveld Tom, Rowell William J, Lee Sangjin, Dolzhenko Egor, Chang Pi-Chuan, Holt James M, Saunders Christopher T, Olson Nathan D, Steely Cody J, McGee Sean, Guarracino Andrea, Koundinya Nidhi, Harvey William T, Watkins W Scott, Munson Katherine M, Hoekzema Kendra, Chua Khi Pin, Chen Xiao, Fanslow Cairbre, Lambert Christine, Dashnow Harriet, Garrison Erik, Smith Joshua D, Lansdorp Peter M, Zook Justin M, Carroll Andrew, Jorde Lynn B, Neklason Deborah W, Quinlan Aaron R, Eichler Evan E, Eberle Michael A
Abstract excerpt
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 standards often focus on specificity, neglecting completeness in difficult-to-analyze regions. To create a more comprehensive truth set, we used Mendelian inheritance in a large pedigree (CEPH-1463) to filter variants across...
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