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Article

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

Human molecular genetics - 23 Aug 2022

Elfatih Amal, Da'as Sahar I, Abdelrahman Doua, Mbarek Hamdi, Mohammed Idris, Hasan Waseem, Fakhro Khalid A, Estivill Xavier, Mifsud Borbala

Abstract excerpt

In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However, there is a lack of epidemiological data on medically actionable rare variants in these genes in Arab populations. We used whole genome sequencing data from 6045...

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Identifiers

PMID: 35348702
DOI: 10.1093/hmg/ddac073
PMCID: PMC9402234

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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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