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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-07-01
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| Series: | Genome Medicine |
| Online Access: | http://link.springer.com/article/10.1186/s13073-020-00761-2 |