Litcius/Paper detail

Mapping and characterization of structural variation in 17,795 human genomes

Haley Abel, David E. Larson, Allison Regier, Colby Chiang, Indraniel Das, Krishna Kanchi, Ryan M. Layer, Benjamin M. Neale, William Salerno, Catherine Reeves, Steven Buyske, Tara C. Matise, Donna M. Muzny, Michael C. Zody, Eric S. Lander, Susan K. Dutcher, Nathan O. Stitziel, Ira M. Hall

2020Nature356 citationsDOIOpen Access PDF

Topics & Concepts

Structural variationGenomeIndelBiologyGeneticsHuman genomeComputational biologyReference genomeGeneWhole genome sequencing1000 Genomes ProjectSingle-nucleotide polymorphismGenotypeGenomics and Phylogenetic StudiesGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities