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dc.contributor.authorRitchie, ME
dc.contributor.authorCarvalho, BS
dc.contributor.authorHetrick, KN
dc.contributor.authorTavare, S
dc.contributor.authorIrizarry, RA
dc.date.accessioned2020-12-21T02:03:27Z
dc.date.available2020-12-21T02:03:27Z
dc.date.issued2009-10-01
dc.identifierpii: btp470
dc.identifier.citationRitchie, M. E., Carvalho, B. S., Hetrick, K. N., Tavare, S. & Irizarry, R. A. (2009). R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips. BIOINFORMATICS, 25 (19), pp.2621-2623. https://doi.org/10.1093/bioinformatics/btp470.
dc.identifier.issn1367-4803
dc.identifier.urihttp://hdl.handle.net/11343/256766
dc.description.abstractUNLABELLED: Illumina produces a number of microarray-based technologies for human genotyping. An Infinium BeadChip is a two-color platform that types between 10(5) and 10(6) 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.
dc.languageEnglish
dc.publisherOXFORD UNIV PRESS
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0
dc.titleR/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
dc.typeJournal Article
dc.identifier.doi10.1093/bioinformatics/btp470
melbourne.affiliation.departmentMedical Biology (W.E.H.I.)
melbourne.source.titleBioinformatics
melbourne.source.volume25
melbourne.source.issue19
melbourne.source.pages2621-2623
dc.rights.licenseCC BY-NC
melbourne.elementsid1230397
melbourne.contributor.authorRitchie, Matthew
dc.identifier.eissn1460-2059
melbourne.accessrightsOpen Access


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