Article
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Human mutation - 1 Dec 2022
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
Abstract excerpt
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 including the Simons Simplex Collection (SSC), Simons Foundation Powering Autism Research (SPARK), and the 1000 Genomes...
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