PGxClean: a quality control GUI for the Affymetrix DMET chip and other candidate gene studies with non-biallelic alleles

被引:3
|
作者
Rotroff, Daniel [1 ]
Jack, John [1 ]
Campbell, Nathan [2 ]
Clark, Scott [2 ]
Motsinger-Reif, Alison A. [1 ,3 ]
机构
[1] N Carolina State Univ, Dept Stat, Bioinformat Res Ctr, Raleigh, NC 27695 USA
[2] Gentris LLC, Morrisville, NC 27560 USA
[3] N Carolina State Univ, Dept Stat, Raleigh, NC 27695 USA
来源
BIODATA MINING | 2014年 / 7卷
关键词
SNP; Bioinformatics; Data visualization; Genomics; POPULATION; ASSOCIATION;
D O I
10.1186/1756-0381-7-24
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Background: PGxClean is a new web application that performs quality control analyses for data produced by the Affymetrix DMET chip or other candidate gene technologies. Importantly, the software does not assume that variants are biallelic single-nucleotide polymorphisms, but can be used on the variety of variant characteristics included on the DMET chip. Once quality control analyses has been completed, the associated PGxClean-Viz web application performs principal component analyses and provides tools for characterizing and visualizing population structure. Findings: The PGxClean web application accepts genotype data from the Affymetrix DMET chip or the PLINK PED format with genotypes annotated as (A,C,G,T or 1,2,3,4). Options for removing missing data and calculating genotype and allele frequencies are offered. Data can be subdivided by cohort characteristics, such as family ID, sex, phenotype, or case-control status. Once the data has been processed through the PGxClean web application, the output files can be entered into the PGxClean-Viz web application for performing principal component analysis to visualize population substructure. Conclusions: The PGxClean software provides rapid quality-control processing, data analysis, and data visualization for the Affymetrix DMET chip or other candidate gene technologies while improving on common analysis platforms by not assuming that variants are biallelic. The web application is available at www.pgxclean.com.
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  • [1] PGxClean: a quality control GUI for the Affymetrix DMET chip and other candidate gene studies with non-biallelic alleles
    Daniel Rotroff
    John Jack
    Nathan Campbell
    Scott Clark
    Alison A Motsinger-Reif
    BioData Mining, 7