Article

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

2016-09-16

Abstract excerpt

The dispensability of individual genes for viability has interested generations of geneticists. For some genes it is essential to maintain two functional chromosomal copies, while other genes may tolerate the loss of one or both copies. Exome sequence data from 60,706 individuals provide sufficient observations of rare protein truncating variants (PTVs) to make genome-wide estimates of selection against heterozygo...

Topics

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

Identifiers and source

Literature Corpus work: 249b24fe-7e6b-5d0a-890a-dd36b613dab0
DOI: 10.1101/075523

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome DataDOI 10.1101/075523Read

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

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

Heterozygous gene truncation delineates the human haploinsufficient genomeSemantic proximity Read

In vivo and in vitro human gene essentiality estimations capture contrasting functional constraintsSemantic proximity Read

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

Analysis of protein-coding genetic variation in 60,706 humans.Semantic proximity Read

A deep catalogue of protein-coding variation in 983,578 individuals.Semantic proximity Read

Analysis of protein-coding genetic variation in 60,706 humansSemantic proximity Read

Integrating 730,947 exome sequences with clinical literature improves gene discoverySemantic proximity Read

A systematic survey of loss-of-function variants in human protein-coding genes.Semantic proximity Read

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

Identification of a large set of rare complete human knockouts.Semantic proximity Read