@article{bartha_characteristics_2015,
	title = {The {Characteristics} of {Heterozygous} {Protein} {Truncating} {Variants} in the {Human} {Genome}},
	volume = {11},
	url = {http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004647},
	doi = {10.1371/journal.pcbi.1004647},
	abstract = {Author Summary Genome sequencing provides evidence for large numbers of putative protein truncating variants in humans. Most truncating variants are only observed in few individuals but are collectively prevalent and widely distributed across the coding genome. Most of the truncating variants are so rare that they are only observed in heterozygosis. The current study identifies 10\% of genes where heterozygous truncations are not observed and describes their biological characteristics. In addition, for genes where rare truncations are observed, we argue that these are an unexplored source of diversity of phenotypic traits and diseases.},
	language = {English},
	number = {12},
	journal = {PLoS Computational Biology},
	author = {Bartha, István and Rausell, Antonio and McLaren, Paul J and Mohammadi, Pejman and Tardaguila, Manuel and Chaturvedi, Nimisha and Fellay, Jacques and Telenti, Amalio},
	month = dec,
	year = {2015},
	pages = {e1004647},
}

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