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Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.

Genes - 20 Oct 2023

Gunsel Aziz Suat, Ergoren Mahmut Cerkez, Kemal Hatice, Kafshboran Haniyeh Rahbar, Cerit Levent, Turgay Ayla, Duygu Hamza

Abstract excerpt

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and complex diseases in clinical diagnosis. However, interpreting and reporting variants encompassing exome and genome sequence analysis outcome data are one of the greatest challenges of the genomic era. In this study, we aimed to...

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Identifiers

PMID: 37895316
DOI: 10.3390/genes14101967
PMCID: PMC10606490

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