ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing

SUMMARY: We introduce shallowHRD, a software tool to evaluate tumor homologous recombination deficiency (HRD) based on whole genome sequencing (WGS) at low coverage (shallow WGS or sWGS; ∼1X coverage). The tool, based on mining copy number alterations profile, implements a fast and straightforward p...

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Detalles Bibliográficos
Autores principales: Eeckhoutte, Alexandre, Houy, Alexandre, Manié, Elodie, Reverdy, Manon, Bièche, Ivan, Marangoni, Elisabetta, Goundiam, Oumou, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Bidard, François-Clément, Stern, Marc-Henri, Popova, Tatiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Applications Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320600/
https://www.ncbi.nlm.nih.gov/pubmed/32315385
http://dx.doi.org/10.1093/bioinformatics/btaa261

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