PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers
Author(s) -
Alejandro Q. Nato,
Nicola H. Chapman,
Harkirat Sohi,
Hiep D. Nguyen,
Zoran Brkanac,
Ellen M. Wijsman
Publication year - 2015
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btv444
Subject(s) - pedigree chart , pipeline (software) , computer science , linkage (software) , software , scripting language , data mining , genetics , biology , gene , operating system
Huge genetic datasets with dense marker panels are now common. With the availability of sequence data and recognition of importance of rare variants, smaller studies based on pedigrees are again also common. Pedigree-based samples often start with a dense marker panel, a subset of which may be used for linkage analysis to reduce computational burden and to limit linkage disequilibrium between single-nucleotide polymorphisms (SNPs). Programs attempting to select markers for linkage panels exist but lack flexibility.
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