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Article

Fast and SNP-tolerant detection of complex variants and splicing in short reads.

Bioinformatics (Oxford, England) - 1 Apr 2010

Wu Thomas D, Nacu Serban

Abstract excerpt

MOTIVATION: Next-generation sequencing captures sequence differences in reads relative to a reference genome or transcriptome, including splicing events and complex variants involving multiple mismatches and long indels. We present computational methods for fast detection of complex variants and splicing in short reads, based on a successively constrained search process of merging and filtering position lists...

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PMID: 20147302
DOI: 10.1093/bioinformatics/btq057
PMCID: PMC2844994

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