The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

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...

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Veröffentlicht in:	PLoS computational biology 2015-12, Vol.11 (12), p.e1004647-e1004647
Hauptverfasser:	Bartha, István, Rausell, Antonio, McLaren, Paul J, Mohammadi, Pejman, Tardaguila, Manuel, Chaturvedi, Nimisha, Fellay, Jacques, Telenti, Amalio
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Chromosome Mapping - methods Codon, Nonsense - genetics Estimates Funding Genes Genetic Variation - genetics Genome, Human - genetics Genomes Humans Molecular Sequence Data Monte Carlo simulation Mutation Proteins Proteins - genetics
Online-Zugang:	Volltext
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