Výsledky vyhledávání - "Marc A. West"

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

Autor: Jeffrey K. Ng, Pankaj Vats, Elyn Fritz‐Waters, Stephanie Sarkar, Eleanor I. Sams, Evin M. Padhi, Zachary L. Payne, Shawn Leonard, Marc A. West, Chandler Prince, Lee Trani, Marshall Jansen, George Vacek, Mehrzad Samadi, Timothy T. Harkins, Craig Pohl, Tychele N. Turner

Publikováno v: Human mutationREFERENCES.

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84529f41b627f6701c481a3894458f4c
https://pubmed.ncbi.nlm.nih.gov/36054329

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

Autor: Jeffrey K. Ng, Pankaj Vats, Elyn Fritz-Waters, Stephanie Sarkar, Eleanor I. Sams, Evin M. Padhi, Zachary L. Payne, Shawn Leonard, Marc A. West, Chandler Prince, Lee Trani, Marshall Jansen, George Vacek, Mehrzad Samadi, Timothy T. Harkins, Craig Pohl, Tychele N. Turner

Detection of de novo variants (DNVs) is critical for studies of disease-related variation and mutation rates. We developed a GPU-based workflow to rapidly call DNVs (HAT) and demonstrated its effectiveness by applying it to 4,216 Simons Simplex Colle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::16ce4003b1ce3f9fe134c3f9cc67934c
https://doi.org/10.1101/2021.05.27.445979