Article
A complete reference genome improves analysis of human genetic variation.
Science (New York, N.Y.) - 1 Apr 2022
Aganezov Sergey, Yan Stephanie M, Soto Daniela C, Kirsche Melanie, Zarate Samantha, Avdeyev Pavel, Taylor Dylan J, Shafin Kishwar, Shumate Alaina, Xiao Chunlin, Wagner Justin, McDaniel Jennifer, Olson Nathan D, Sauria Michael E G, Vollger Mitchell R, Rhie Arang, Meredith Melissa, Martin Skylar, Lee Joyce, Koren Sergey, Rosenfeld Jeffrey A, Paten Benedict, Layer Ryan, Chin Chen-Shan, Sedlazeck Fritz J, Hansen Nancy F, Miller Danny E, Phillippy Adam M, Miga Karen H, McCoy Rajiv C, Dennis Megan Y, Zook Justin M, Schatz Michael C
Abstract excerpt
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 million base pairs of sequence, corrects thousands of structural errors, and unlocks the most complex regions of the human genome for clinical and functional study. We show how this reference universally improves read mapping and variant calling for 3202 and 17 globally diverse samples sequenced with short and long reads,...
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