Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubskỳ, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, , Charles Lee
This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.
Nature Communications · Apr 16, 2019Peer-reviewedGenomics