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

作者：Zev Kronenberg, C. Nolan, David Porubskỳ, Tom Mokveld, William J. Rowell, S. Y. Lee, Egor Dolzhenko, Pi-Chuan Chang, James Holt, Christopher T. Saunders, Nathan D. Olson, Cody J. Steely, Sean McGee, Andrea Guarracino, Nidhi Koundinya, William T. Harvey, W. Scott Watkins, Katherine M. Munson, Kendra Hoekzema, Khi Pin Chua, Xiao Chen, Cairbre Fanslow, Christine Lambert, Harriet Dashnow, Erik Garrison, Joshua D. Smith, Peter M. Lansdorp, Justin M. Zook, Andrew Carroll, Lynn B. Jorde, Deborah W. Neklason, Aaron R. Quinlan, Evan E. Eichler, Michael A. Eberle · 发表于：Nature Methods · 年份：2025 · DOI：10.1038/s41592-025-02750-y · 被引用次数：13 · 研究领域：Genomics and Phylogenetic Studies、Genomics and Rare Diseases、RNA and protein synthesis mechanisms