A complete reference genome improves analysis of human genetic variation
Sergey S. Aganezov, Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, Pavel Avdeyev, Dylan J. Taylor, Kishwar Shafin, Alaina Shumate, Chunlin Xiao, Justin Wagner, Jennifer McDaniel, Nathan D. Olson, Michael E.G. Sauria, Mitchell Robert Vollger, , Michael C. Schatz
The T2T-CHM13 reference genome improves read mapping and variant calling across diverse samples, reducing false positives and enabling novel variant discovery.
Science · Mar 31, 2022Peer-reviewedGenomics