HPexome: An automated tool for processing whole-exome sequencing data
Author(s) -
Lucas L. Cendes,
Wélliton de Souza,
Íscia LopesCendes,
Benilton S. Carvalho
Publication year - 2020
Publication title -
softwarex
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.528
H-Index - 21
ISSN - 2352-7110
DOI - 10.1016/j.softx.2020.100478
Subject(s) - computer science , workflow , exome sequencing , exome , identification (biology) , genomics , data mining , database , genome , mutation , biology , genetics , botany , gene
Whole-exome sequencing has been widely used in clinical applications for the identification of the genetic causes of several diseases. HPexome is a command-line tool that automates many data processing tasks for exome-sequencing data analysis of large-scale cohorts. Given ready-analysis alignment files, HPexome breaks input data into smaller pieces defined by genomic regions and efficiently processes them in parallel using cluster-computing environments. It relies on the Queue workflow execution engine, GATK variant calling tool, and its best practices to output a high-confident multi-sample genomics variant file.
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