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Article

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.

Human molecular genetics - 18 May 2024

Brock Daniel C, Wang Meng, Hussain Hafiz Muhammad Jafar, Rauch David E, Marra Molly, Pennesi Mark E, Yang Paul, Everett Lesley, Ajlan Radwan S, Colbert Jason, Porto Fernanda Belga Ottoni, Matynia Anna, Gorin Michael B, Koenekoop Robert K, Lopez Irma, Sui Ruifang, Zou Gang, Li Yumei, Chen Rui

Abstract excerpt

Inherited retinal diseases (IRDs) are a group of rare genetic eye conditions that cause blindness. Despite progress in identifying genes associated with IRDs, improvements are necessary for classifying rare autosomal dominant (AD) disorders. AD diseases are highly heterogenous, with causal variants being restricted to specific amino acid changes within certain protein domains, making AD conditions difficult to...

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Identifiers

PMID: 38453143
DOI: 10.1093/hmg/ddae028
PMCID: PMC11102593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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