Article

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

2019-11-12

Abstract excerpt

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 frequently detected through pairwise comparisons of the tumor and a matched normal tissue from the sample donor, and in many cases, only somatic variants are reported. The disjoint ge...

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Literature Corpus work: 49714c89-7bbb-5ef6-af00-cf6823c4767d
DOI: 10.1101/839944

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