Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

Introduction: Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to associate their results is challenging. This study aims to prove...

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Bibliographic Details
Main Authors: Mariam M. Al Eissa, Raniah S. Alotibi, Bader Alhaddad, Taghrid Aloraini, Manar S. Samman, Abdulrahman AlAsiri, Mohamed Abouelhoda, Amerh S. AlQahtani
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Genetics
Subjects:
single nucleotide variation
variants of unknown significance
exome sequencing
next-generation sequencing
novel variation
disease-related
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1250317/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1250317/full

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