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

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

2025Nature Methods13 citationsDOIOpen Access PDF

Topics & Concepts

IndelGenomeComputational biologyGeneticsBiologyGenotypingHuman genomeNanopore sequencingReference genomeDNA sequencingComputer scienceSingle-nucleotide polymorphismGeneGenotypeGenomics and Phylogenetic StudiesGenomics and Rare DiseasesRNA and protein synthesis mechanisms
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