Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches

Abstract Background When interpreting sequencing data from multiple spatial or longitudinal biopsies, detecting sample mix-ups is essential, yet more difficult than in studies of germline variation. In most genomic studies of tumors, genetic variation is detected through pairwise comparisons of the...

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Bibliographic Details
Main Authors: Brent S. Pedersen, Preetida J. Bhetariya, Joe Brown, Stephanie N. Kravitz, Gabor Marth, Randy L. Jensen, Mary P. Bronner, Hunter R. Underhill, Aaron R. Quinlan
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Genome Medicine
Online Access:http://link.springer.com/article/10.1186/s13073-020-00761-2