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Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.

Clinica chimica acta; international journal of clinical chemistry - 30 Jan 2025

Rius Ana, Aguirre Nicolas, Erra Lorenzo, Brunello Franco Gino, Biagioli German, Zaiat Jonathan, Marti Marcelo A

Abstract excerpt

With the rapid development of massive sequencing technologies, the analysis of genetic variants for clinical diagnosis has exponentially escalated, particularly in the context of Rare Diseases (RDs). Diagnosing them involves identifying the genetic variants responsible for the underlying pathology development. In 2015, the American College of Medical Genetics (ACMG) established a set of recommendations to assess...

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PMID: 39615735
DOI: 10.1016/j.cca.2024.120065

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