z-logo
open-access-imgOpen Access
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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here
Accelerating Research

Address

John Eccles House
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom