Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-01

AUTHORS

Joke Reumers, Peter De Rijk, Hui Zhao, Anthony Liekens, Dominiek Smeets, John Cleary, Peter Van Loo, Maarten Van Den Bossche, Kirsten Catthoor, Bernard Sabbe, Evelyn Despierre, Ignace Vergote, Brian Hilbush, Diether Lambrechts, Jurgen Del-Favero

ABSTRACT

Distinguishing single-nucleotide variants (SNVs) from errors in whole-genome sequences remains challenging. Here we describe a set of filters, together with a freely accessible software tool, that selectively reduce error rates and thereby facilitate variant detection in data from two short-read sequencing technologies, Complete Genomics and Illumina. By sequencing the nearly identical genomes from monozygotic twins and considering shared SNVs as 'true variants' and discordant SNVs as 'errors', we optimized thresholds for 12 individual filters and assessed which of the 1,048 filter combinations were effective in terms of sensitivity and specificity. Cumulative application of all effective filters reduced the error rate by 290-fold, facilitating the identification of genetic differences between monozygotic twins. We also applied an adapted, less stringent set of filters to reliably identify somatic mutations in a highly rearranged tumor and to identify variants in the NA19240 HapMap genome relative to a reference set of SNVs. More... »

PAGES

61

References to SciGraph publications

  • 2010-02-11. Ancient human genome sequence of an extinct Palaeo-Eskimo in NATURE
  • 2008-03. 1000 Genomes project in NATURE BIOTECHNOLOGY
  • 2010-11. L1 retrotransposition in neurons is modulated by MeCP2 in NATURE
  • 2009-08. A highly annotated whole-genome sequence of a Korean individual in NATURE
  • 2011-06-29. Integrated genomic analyses of ovarian carcinoma in NATURE
  • 2010-01. A comprehensive catalogue of somatic mutations from a human cancer genome in NATURE
  • 2010-02-18. Complete Khoisan and Bantu genomes from southern Africa in NATURE
  • 2008-11. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome in NATURE
  • 2010-05. The mutation spectrum revealed by paired genome sequences from a lung cancer patient in NATURE
  • 2010-11. Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing in NATURE GENETICS
  • 2010-06. Uncovering the roles of rare variants in common disease through whole-genome sequencing in NATURE REVIEWS GENETICS
  • 2010-04. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis in NATURE
  • 2010-09. Integrating common and rare genetic variation in diverse human populations in NATURE
  • 2007-01. Direct estimation of per nucleotide and genomic deleterious mutation rates in Drosophila in NATURE
  • 2010-10-28. A map of human genome variation from population-scale sequencing in NATURE
  • 2011-06. The sequence is dead: long live the genome in NATURE BIOTECHNOLOGY
  • 2010-09. Sequencing and analysis of an Irish human genome in GENOME BIOLOGY
  • 2010-04. A method and server for predicting damaging missense mutations in NATURE METHODS
  • 2010-01. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes in NATURE
  • 2008-04-17. The complete genome of an individual by massively parallel DNA sequencing in NATURE
  • 2008-11. Accurate whole human genome sequencing using reversible terminator chemistry in NATURE
  • 2010-01. A small-cell lung cancer genome with complex signatures of tobacco exposure in NATURE
  • 2011-01. Haplotype-resolved genome sequencing of a Gujarati Indian individual in NATURE BIOTECHNOLOGY
  • 2004-03. A census of human cancer genes in NATURE REVIEWS CANCER
  • 2011-05. A framework for variation discovery and genotyping using next-generation DNA sequencing data in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nbt.2053

    DOI

    http://dx.doi.org/10.1038/nbt.2053

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1005175908

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/22178994


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