Genotype and Phenotype Analysis Using a Hypertrophic Cardiomyopathy-Associated Gene Panel in Turkish Cardiomyopathy Patients

Bilgic, Dilek Gun

doi:10.34087/cbusbed.1052808

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Next-generation Sequencing1

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2023

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“…Multiple amplicon DNA libraries were obtained using an assay kit (QIAseq Targeted DNA Panel) according to the manufacturer's instructions. DNA libraries were prepared as in the literature [8]. The libraries were then aggregated and sequenced using the Illumina NGS system (MiniSeq®, Illumina MiniSeq).…”

Section: Next-generation Sequencingmentioning

confidence: 99%

Genotype and Phenotype Analysis Using a Hyperlipidemia-Associated Gene Panel in Turkish Dyslipidemia Patients

GÜN BİLGİÇ

2023

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

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Objective: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Numerous genes have been associated with familial hypercholesterolemia and are being investigated by gene panel testing in patients with familial hypercholesterolemia. Methods: In the present study, 28 patients with FH and some of their parents were evaluated via next-generation sequencing (NGS) using a targeted panel of 32 genes. Results: Pathogenic or likely pathogenic variants were detected in six patients in the genes LDLR LIPC and CETP. Conclusion: The genotype-phenotype correlations of these variants were discussed by comparing the clinical findings with the literature.

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Section: Next-generation Sequencingmentioning

confidence: 99%