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The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

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Listed:
  • István Bartha
  • Antonio Rausell
  • Paul J McLaren
  • Pejman Mohammadi
  • Manuel Tardaguila
  • Nimisha Chaturvedi
  • Jacques Fellay
  • Amalio Telenti

Abstract

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene’s tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546 individuals. We observed 39,893 truncating variants affecting 12,062 genes, which significantly differed from an expectation of 12,916 genes under a model of neutral de novo mutation (p

Suggested Citation

  • István Bartha & Antonio Rausell & Paul J McLaren & Pejman Mohammadi & Manuel Tardaguila & Nimisha Chaturvedi & Jacques Fellay & Amalio Telenti, 2015. "The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome," PLOS Computational Biology, Public Library of Science, vol. 11(12), pages 1-14, December.
    • Handle: RePEc:plo:pcbi00:1004647
    DOI: 10.1371/journal.pcbi.1004647
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    References listed on IDEAS

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    1. Ni Huang & Insuk Lee & Edward M Marcotte & Matthew E Hurles, 2010. "Characterising and Predicting Haploinsufficiency in the Human Genome," PLOS Genetics, Public Library of Science, vol. 6(10), pages 1-11, October.
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