4.7 Article

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

期刊

BIOINFORMATICS
卷 25, 期 19, 页码 2621-2623

出版社

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btp470

关键词

-

资金

  1. Isaac Newton Trust and NHMRC Program [406657]
  2. NHMRC IRIISS [361646]
  3. Victorian State Government OIS
  4. National Institutes of Health [R01GM083084, R01RR021967, P41HG004059]
  5. Cancer Research UK
  6. Cancer Research UK [19556] Funding Source: researchfish

向作者/读者索取更多资源

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.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据