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