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Article

Predicted genetic burden and frequency of phenotype-associated variants in the horse.

Scientific reports - 10 Apr 2024

Durward-Akhurst S A, Marlowe J L, Schaefer R J, Springer K, Grantham B, Carey W K, Bellone R R, Mickelson J R, McCue M E

Abstract excerpt

Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted deleterious variants that healthy individuals carry (predicted genetic burden). Estimation of the predicted genetic burden and...

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Identifiers

PMID: 38600096
DOI: 10.1038/s41598-024-57872-8
PMCID: PMC11006912

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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