PEMapper / PECaller: A simplified approach to whole-genome sequencing
PEMapper / PECaller: A simplified approach to whole-genome sequencing
ABSTRACT The analysis of human whole-genome sequencing data presents significant computational challenges. The sheer size of datasets places an enormous burden on computational, disk array, and network resources. Here we present an integrated computational package, PEMapper/PECaller, that was designed specifically to minimize the burden on networks and disk arrays, create output files that are minimal in size, and run in a highly computationally efficient way, with the single goal of enabling whole-genome sequencing at scale. In addition to improved computational efficiency, we implement a novel statistical framework that allows for a base-by-base error model, allowing this package to perform as well or better than the widely used Genome Analysis Toolkit (GATK) in all key measures of performance on human whole-genome sequences.
Warren Stephen T、Zwick Michael E、Cutler David J.、Johnston H Richard、Patel Viren、Wingo Thomas S、Epstein Michael P、Chopra Pankaj、Internation Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome、Mulle Jennifer
Department of Human Genetics, Emory University School of Medicine||Departments of Pediatrics and Biochemistry, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of Medicine||Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public HealthDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of Medicine||Division of Neurology, Atlanta Veterans Affairs Medical Center||Department of Neurology, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of MedicineDepartment of Human Genetics, Emory University School of Medicine||Department of Epidemiology, Emory University Rollins School of Public Health
计算技术、计算机技术生物科学现状、生物科学发展遗传学
Genetic variationSequencing algorithmsGenomicsSecond-generation sequencing
Warren Stephen T,Zwick Michael E,Cutler David J.,Johnston H Richard,Patel Viren,Wingo Thomas S,Epstein Michael P,Chopra Pankaj,Internation Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome,Mulle Jennifer.PEMapper / PECaller: A simplified approach to whole-genome sequencing[EB/OL].(2025-03-28)[2025-04-26].https://www.biorxiv.org/content/10.1101/076968.点此复制
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