Assembly and annotation of an Ashkenazi human reference genome

Abstract Background Thousands of experiments and studies use the human reference genome as a resource each year. This single reference genome, GRCh38, is a mosaic created from a small number of individuals, representing a very small sample of the human population. There is a need for reference genom...

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Bibliographic Details
Main Authors: Alaina Shumate, Aleksey V. Zimin, Rachel M. Sherman, Daniela Puiu, Justin M. Wagner, Nathan D. Olson, Mihaela Pertea, Marc L. Salit, Justin M. Zook, Steven L. Salzberg
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Genome Biology
Online Access:http://link.springer.com/article/10.1186/s13059-020-02047-7