Article

A comparative medical genomics approach may facilitate the interpretation of rare missense variation

2023-11-13

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To determine the degree to which likely causal missense variants of single-locus traits in non-human livestock and domestic species have features suggestive of pathogenicity in a human genomic context. <h4>Methods</h4> We extracted missense variants from the Online Mendelian Inheritance in Animals database for nine animals (cat, cattle, chicken, dog, goat, horse, pig, rabbit, she...

Topics

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

Identifiers and source

Literature Corpus work: 1eba1991-0bf7-5760-93c2-c4ad2b1222e7
DOI: 10.1101/2023.11.13.23298179

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A comparative medical genomics approach may facilitate the interpretation of rare missense variationDOI 10.1101/2023.11.13.23298179Read

Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animalsSemantic proximity Read

Reproducibility of the evaluation of genetic variant pathogenicity based on the animal variant classification guidelinesSemantic proximity Read

Reproducibility of the Evaluation of Genetic Variant Pathogenicity Based on the Animal Variant Classification Guidelines.Semantic proximity Read

Variant classification guidelines for animals to objectively evaluate genetic variant pathogenicitySemantic proximity Read

The landscape of tolerated genetic variation in humans and primatesSemantic proximity Read

Leveraging cancer mutation data to predict the pathogenicity of germline missense variantsSemantic proximity Read

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteriaSemantic proximity Read

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Semantic proximity Read

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsSemantic proximity Read

Evaluation of<i>in silico</i>pathogenicity prediction tools for the classification of small in-frame indelsSemantic proximity Read

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variantsSemantic proximity Read

Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update.Semantic proximity Read