Article
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.
Genome medicine - 14 Jul 2020
Pedersen Brent S, Bhetariya Preetida J, Brown Joe, Kravitz Stephanie N, Marth Gabor, Jensen Randy L, Bronner Mary P, Underhill Hunter R, Quinlan Aaron R
Abstract excerpt
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 tumor and a matched normal tissue from the sample donor. In many cases, only somatic variants are reported, which hinders...
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