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Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Clinical genetics - 1 Sept 2025

Kablan Ahmet, Sezer Abdullah, Bakır Abdullatif, Taşdelen Elifcan, Dinçsoy Bir Firdevs, Erdem Haktan Bagis, Saat Hanife, Alay Mustafa Tarık, Kolkıran Abdulkerim, Ataseven Kulali Melike, Güneş Hakan

Abstract excerpt

Multilocus genomic variations (MGVs), defined as pathogenic variants in two or more independent loci, are increasingly recognised in individuals with complex clinical phenotypes, particularly in highly consanguineous populations. Recent advancements in technologies, including exome and whole-genome sequencing, have revolutionised the diagnostic landscape, facilitating the identification of MGVs. This...

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PMID: 40189899
DOI: 10.1111/cge.14740

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