Article

Measuring “Intolerance to Mutation” in Human Genetics

2018-08-01

Abstract excerpt

In numerous applications, from working with animal models to mapping the genetic basis of human disease susceptibility, it is useful to know whether a single disrupting mutation in a gene is likely to be deleterious 1–4 . With this goal in mind, a number of measures have been developed to identify genes in which protein-truncating variants (PTVs), or other types of mutations, are absent or kept at very low freque...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c3a7339a-b7a3-52fc-b43a-6c02ad15336d
DOI: 10.1101/382481

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Measuring “Intolerance to Mutation” in Human GeneticsDOI 10.1101/382481Read

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.Semantic proximity Read

Heterozygous gene truncation delineates the human haploinsufficient genomeSemantic proximity Read

Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function allelesSemantic proximity Read

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.Semantic proximity Read

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrumSemantic proximity Read

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank studySemantic proximity Read

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.Semantic proximity Read

Genic intolerance to functional variation and the interpretation of personal genomes.Semantic proximity Read

Refining the role of <i>de novo</i> protein truncating variants in neurodevelopmental disorders using population reference samplesSemantic proximity Read

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.Semantic proximity Read

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome DataSemantic proximity Read

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in HeterozygotesSemantic proximity Read