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The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.

Genes - 12 Jan 2023

Shu Li, Maroilley Tatiana, Tarailo-Graovac Maja

Abstract excerpt

Complex genetic disease mechanisms, such as structural or non-coding variants, currently pose a substantial difficulty in frontline diagnostic tests. They thus may account for most unsolved rare disease patients regardless of the clinical phenotype. However, the clinical diagnosis can narrow the genetic focus to just a couple of genes for patients with well-established syndromes defined by prominent physical...

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PMID: 36672937
DOI: 10.3390/genes14010196
PMCID: PMC9858967

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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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