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PMID: 21320865 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

Improving SNP discovery by base alignment quality.

Bioinformatics (Oxford, England) ·Vol. 27 ·No. 8 ·2011-04-15 ·Pages 1157-8

Li H

Abstract

I propose a new application of profile Hidden Markov Models in the area of SNP discovery from resequencing data, to greatly reduce false SNP calls caused by misalignments around insertions and deletions (indels). The central concept is per-Base Alignment Quality, which accurately measures the probability of a read base being wrongly aligned. The effectiveness of BAQ has been positively confirmed on large datasets by the 1000 Genomes Project analysis subgroup. http://samtools.sourceforge.net hengli@broadinstitute.org.

MeSH Terms
Algorithms Base Sequence Genomics INDEL Mutation Markov Chains Polymorphism, Single Nucleotide Sequence Alignment/methods,standards
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Li Heng
Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA. hengli@broadinstitute.org
References (3)
3 references, click to expand
  1. The Sequence Alignment/Map format and SAMtools.
    Bioinformatics. 2009 Aug 15;25(16):2078-9 PMID: 19505943
  2. A survey of sequence alignment algorithms for next-generation sequencing.
    Brief Bioinform. 2010 Sep;11(5):473-83 PMID: 20460430
  3. A map of human genome variation from population-scale sequencing.
    Nature. 2010 Oct 28;467(7319):1061-73 PMID: 20981092
Article Info
Journal
Bioinformatics (Oxford, England)
Abbr.
Bioinformatics
ISSN
1367-4811
Published
2011-04-15
Epub
2011-00-13
Pages
1157-8
Language
English
Region
England
NLM ID
9808944
PMCID
PMC3072548
Subset
IM
Grants
NHGRI NIH HHS · U01 HG005208 · United States
NHGRI NIH HHS · 1U01HG005208-01 · United States
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