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Article

ABRA: improved coding indel detection via assembly-based realignment.

Bioinformatics (Oxford, England) - 1 Oct 2014

Mose Lisle E, Wilkerson Matthew D, Hayes D Neil, Perou Charles M, Parker Joel S

Abstract excerpt

MOTIVATION: Variant detection from next-generation sequencing (NGS) data is an increasingly vital aspect of disease diagnosis, treatment and research. Commonly used NGS-variant analysis tools generally rely on accurately mapped short reads to identify somatic variants and germ-line genotypes. Existing NGS read mappers have difficulty accurately mapping short reads containing complex variation (i.e. more than a...

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PMID: 24907369
DOI: 10.1093/bioinformatics/btu376
PMCID: PMC4173014

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ABRA

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