Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1782172293996216320 |
---|---|
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 |
format | Text |
id | pubmed-2752620 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT ritchiematthewe rbioconductorsoftwareforilluminasinfiniumwholegenomegenotypingbeadchips AT carvalhobeniltons rbioconductorsoftwareforilluminasinfiniumwholegenomegenotypingbeadchips AT hetrickkurtn rbioconductorsoftwareforilluminasinfiniumwholegenomegenotypingbeadchips AT tavaresimon rbioconductorsoftwareforilluminasinfiniumwholegenomegenotypingbeadchips AT irizarryrafaela rbioconductorsoftwareforilluminasinfiniumwholegenomegenotypingbeadchips |