Article

Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles

2020-08-18

Abstract excerpt

Accurate annotation of putative loss-of-function (pLoF) variants is an important problem in human genomics and disease, which recently drew substantial attention. Since such variants in disease-related genes are under strong negative selection, their frequency across major ancestral groups is expected to be highly similar. In this study, we tested this assumption by systematically assessing the presence of highly...

Topics

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

Identifiers and source

Literature Corpus work: 8e8e0c2b-41c0-5da1-b873-493c7a9b0247
DOI: 10.1101/2020.08.17.254904

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function allelesDOI 10.1101/2020.08.17.254904Read

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

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

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read

Non-Coding Loss-of-Function Variation in Human Genomes.Semantic proximity Read

Heterozygous gene truncation delineates the human haploinsufficient genomeSemantic proximity Read

The mutational constraint spectrum quantified from variation in 141,456 humansSemantic proximity Read

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataSemantic proximity Read

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

GLOF: A large-scale expert-curated benchmark dataset of gain-of-function and loss-of-function missense variantsSemantic proximity Read

The mutational constraint spectrum quantified from variation in 141,456 humans.Semantic proximity Read

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

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