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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 10(5) and 10(6) single nucleotide polymorphisms (SNPs) per sample. Despite being widely used, there is a shortage of open source software to proc...

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Autores principales: Ritchie, Matthew E., Carvalho, Benilton S., Hetrick, Kurt N., Tavaré, Simon, Irizarry, Rafael A.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752620/
https://www.ncbi.nlm.nih.gov/pubmed/19661241
http://dx.doi.org/10.1093/bioinformatics/btp470
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author Ritchie, Matthew E.
Carvalho, Benilton S.
Hetrick, Kurt N.
Tavaré, Simon
Irizarry, Rafael A.
author_facet Ritchie, Matthew E.
Carvalho, Benilton S.
Hetrick, Kurt N.
Tavaré, Simon
Irizarry, Rafael A.
author_sort Ritchie, Matthew E.
collection PubMed
description Summary: 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. Contact: mritchie@wehi.edu.au; rafa@jhu.edu
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spelling pubmed-27526202009-10-01 R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips Ritchie, Matthew E. Carvalho, Benilton S. Hetrick, Kurt N. Tavaré, Simon Irizarry, Rafael A. Bioinformatics Applications Note Summary: 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. Contact: mritchie@wehi.edu.au; rafa@jhu.edu Oxford University Press 2009-10-01 2009-08-06 /pmc/articles/PMC2752620/ /pubmed/19661241 http://dx.doi.org/10.1093/bioinformatics/btp470 Text en http://creativecommons.org/licenses/by-nc/2.0/uk/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Ritchie, Matthew E.
Carvalho, Benilton S.
Hetrick, Kurt N.
Tavaré, Simon
Irizarry, Rafael A.
R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
title R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
title_full R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
title_fullStr R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
title_full_unstemmed R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
title_short R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips
title_sort r/bioconductor software for illumina's infinium whole-genome genotyping beadchips
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752620/
https://www.ncbi.nlm.nih.gov/pubmed/19661241
http://dx.doi.org/10.1093/bioinformatics/btp470
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