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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362544/
https://www.ncbi.nlm.nih.gov/pubmed/32664994
http://dx.doi.org/10.1186/s13073-020-00761-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362544/
https://www.ncbi.nlm.nih.gov/pubmed/32664994
http://dx.doi.org/10.1186/s13073-020-00761-2

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