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Article

Implementation of a dyadic nomenclature for monogenic diseases.

American journal of human genetics - 5 Sept 2024

Thaxton Courtney, Biesecker Leslie G, DiStefano Marina, Haendel Melissa, Hamosh Ada, Owens Emma, Plon Sharon E, Rehm Heidi L, Berg Jonathan S

Abstract excerpt

A core task when establishing the strength of evidence for a gene's role in a monogenic disorder is determining the appropriate disease entity to curate. Establishing this concept determines which evidence can be applied and quantified toward the final gene-disease validity, variant pathogenicity, or actionability classification. Genes with implications in more than one phenotype can necessitate a process of...

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Identifiers

PMID: 39241757
DOI: 10.1016/j.ajhg.2024.07.019
PMCID: PMC11393707

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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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