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Heterozygous gene truncation delineates the human haploinsufficient genome

bioRxiv

Oct 23, 2014

István BarthaAmalio Telenti

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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 tru...read more

Mentioned in this Paper

Study
Genome Sequencing
Population Group
Genome
Protein Truncation
Haploinsufficiency
Evolution, Neutral
Frameshift Mutation Function
EAF2 gene
Protein Truncation Abnormality
7
15
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  • Heterozygous gene truncation delineates the human haploinsufficient genome

    bioRxiv

    Oct 23, 2014

    István BarthaAmalio Telenti

    PMID: 990010611

    DOI: 10.1101/010611

    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 tru...read more

    Mentioned in this Paper

    Study
    Genome Sequencing
    Population Group
    Genome
    Protein Truncation
    7
    15

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