Open AccessPRISM: Pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants
Author(s) -
Yue Jiang,
Yadong Wang,
Michael Brudno
Publication year - 2012
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/bts484
Subject(s) - base (topology) , prism , computer science , software , algorithm , mathematics , physics , optics , programming language , mathematical analysis
The development of high-throughput sequencing technologies has enabled novel methods for detecting structural variants (SVs). Current methods are typically based on depth of coverage or pair-end mapping clusters. However, most of these only report an approximate location for each SV, rather than exact breakpoints.
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