Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

Genome Biol. 2010;11(10):R99. doi: 10.1186/gb-2010-11-10-r99. Epub 2010 Oct 8.

Abstract

A primary component of next-generation sequencing analysis is to align short reads to a reference genome, with each read aligned independently. However, reads that observe the same non-reference DNA sequence are highly correlated and can be used to better model the true variation in the target genome. A novel short-read micro realigner, SRMA, that leverages this correlation to better resolve a consensus of the underlying DNA sequence of the targeted genome is described here.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Algorithms*
  • Base Sequence
  • Cell Line, Tumor
  • Computational Biology / methods*
  • Gene Frequency
  • Genome, Human*
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Sequence Alignment / methods*
  • Sequence Analysis, DNA / methods*