de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data from three parent‐child sequenced cohorts includin...

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Detalles Bibliográficos
Autores principales: Ng, Jeffrey K., Vats, Pankaj, Fritz‐Waters, Elyn, Sarkar, Stephanie, Sams, Eleanor I., Padhi, Evin M., Payne, Zachary L., Leonard, Shawn, West, Marc A., Prince, Chandler, Trani, Lee, Jansen, Marshall, Vacek, George, Samadi, Mehrzad, Harkins, Timothy T., Pohl, Craig, Turner, Tychele N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771978/
https://www.ncbi.nlm.nih.gov/pubmed/36054329
http://dx.doi.org/10.1002/humu.24455

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