Sequencing by hybridization to oligonucleotides has evolved into an inexpensive, reliable and fast technology for targeted sequencing. Hundreds of human genes can now be sequenced within a day using a single hybridization to a resequencing microarray. However, several issues inherent to these arrays (e.g. cross-hybridization, variable probe/target affinity) cause sequencing errors and have prevented more widespread applications. We developed an R package for resequencing microarray data analysis that integrates a novel statistical algorithm, sequence robust multi-array analysis (SRMA), for rare variant detection with high sensitivity (false negative rate, FNR 5%) and accuracy (false positive rate, FPR 1Ã10â»âµ). The SRMA package consists of five modules for quality control, data normalization, single array analysis, multi-array analysis and output analysis. The entire workflow is efficient and identifies rare DNA single nucleotide variations and structural changes such as gene deletions with high accuracy and sensitivity. AVAILABILITY: http://cran.r-project.org/, http://odin.mdacc.tmc.edu/~wwang7/SRMAIndex.html
SRMA: an R package for resequencing array data analysis.
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作者:Zhang Nianxiang, Xu Yan, O'Hely Martin, Speed Terence P, Scharfe Curt, Wang Wenyi
| 期刊: | Bioinformatics | 影响因子: | 5.400 |
| 时间: | 2012 | 起止号: | 2012 Jul 15; 28(14):1928-30 |
| doi: | 10.1093/bioinformatics/bts286 | ||
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