Open AccessUltrafast SNP analysis using the Burrows–Wheeler transform of short-read data
Author(s) -
Kouichi Kimura,
Asako Koike
Publication year - 2015
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/btv024
Subject(s) - computer science , workstation , exome sequencing , reference genome , single nucleotide polymorphism , computational biology , genome , algorithm , biology , genetics , operating system , mutation , gene , genotype
Sequence-variation analysis is conventionally performed on mapping results that are highly redundant and occasionally contain undesirable heuristic biases. A straightforward approach to single-nucleotide polymorphism (SNP) analysis, using the Burrows-Wheeler transform (BWT) of short-read data, is proposed.
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