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 varia...

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Publicat a:PLoS Comput Biol
Autors principals: Bartha, István, Rausell, Antonio, McLaren, Paul J., Mohammadi, Pejman, Tardaguila, Manuel, Chaturvedi, Nimisha, Fellay, Jacques, Telenti, Amalio
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4671652/
https://ncbi.nlm.nih.gov/pubmed/26642228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1004647
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