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

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 an...

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Bibliografiske detaljer
Udgivet i:Genome Med
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7362544/
https://ncbi.nlm.nih.gov/pubmed/32664994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00761-2
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