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R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips Summary: Illumina produces a number of microarray-based technologies for human genotyping. An Infinium BeadChip is a two-color platform that types between 105 and 106 single nucleotide polymorphisms (SNPs) per sample. Despite being widely used, there is a shortage of open source software to process the raw intensities from this platform into genotype calls. To this end, we have developed the R/Bioconductor package crlmm for analyzing BeadChip data. After careful preprocessing, our software applies the CRLMM algorithm to produce genotype calls, confidence scores and other quality metrics at both the SNP and sample levels. We provide access to the raw summary-level intensity data, allowing users to develop their own methods for genotype calling or copy number analysis if they wish.Availability and Implementation: The crlmm Bioconductor package is available from http://www.bioconductor.org. Data packages and documentation are available from http://rafalab.jhsph.edu/software.html.Contact: mritchie@wehi.edu.au; rafa@jhu.edu http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Bioinformatics Oxford University Press

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips

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References (25)

Publisher
Oxford University Press
Copyright
© 2009 The Author(s)
ISSN
1367-4803
eISSN
1460-2059
DOI
10.1093/bioinformatics/btp470
pmid
19661241
Publisher site
See Article on Publisher Site

Abstract

Summary: Illumina produces a number of microarray-based technologies for human genotyping. An Infinium BeadChip is a two-color platform that types between 105 and 106 single nucleotide polymorphisms (SNPs) per sample. Despite being widely used, there is a shortage of open source software to process the raw intensities from this platform into genotype calls. To this end, we have developed the R/Bioconductor package crlmm for analyzing BeadChip data. After careful preprocessing, our software applies the CRLMM algorithm to produce genotype calls, confidence scores and other quality metrics at both the SNP and sample levels. We provide access to the raw summary-level intensity data, allowing users to develop their own methods for genotype calling or copy number analysis if they wish.Availability and Implementation: The crlmm Bioconductor package is available from http://www.bioconductor.org. Data packages and documentation are available from http://rafalab.jhsph.edu/software.html.Contact: mritchie@wehi.edu.au; rafa@jhu.edu

Journal

BioinformaticsOxford University Press

Published: Aug 6, 2009

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