The Effects of Sequencing Depth and Cohort Size on NGS CNV Analysis

White PapersBy Tolga Aslan, PhDFebruary 28, 2021

Delve into the impact of sequencing depth and cohort size on NGS CNV analysis, exploring the relationship between these factors and the sensitivity and specificity of detecting copy number variations in genetic studies.

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Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

Human Mutation, 2020By Ahmet Can TurkogluJune 24, 2020

Ceren Tunca, Tuncay Şeker, Fulya Akçimen, Cemre Coşkun, Robin Palvadeau et al.

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SEQ Platform’s Automated Variant Classification Tool: Highlighting VUS+ and VUS++ Classification

White PapersBy Tuncay Şeker, PhDDecember 4, 2019

Discover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.

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Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant 

Molecular Syndromology, 2020By Ahmet Can TurkogluNovember 26, 2019

Aslihan Sanri, Hakan Gurkan and Selma Demir

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Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

Neurogenetics, 2019By Ahmet Can TurkogluNovember 19, 2019

R. Palvadeau, Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak et al.

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Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia Open, 2019By Ahmet Can TurkogluJune 22, 2019

Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç et al.

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Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes

International Journal of Immunogenetics, 2019By Ahmet Can TurkogluMay 28, 2019

Berk Ozyilmaz, Ozgur Kirbiyik, Altug Koc, Taha R. Ozdemir, Ozge Kaya Ozer et al.

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The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016

Balkan Medical Journal, 2019By Ahmet Can TurkogluMay 10, 2019

Melih Hangül, Sevgi Pekcan, Mehmet Köse, Deniz Acıcan, Tuba Esra Şahlar et al.

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A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene

International Journal of Neuroscience, 2019By Ahmet Can TurkogluMarch 5, 2019

Taha Reşid Özdemir, Pınar Gençpınar, Pınar Arıcan, Özgür Öztekin, Nihal Olgaç Dündar, and Berk Özyılmaz

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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Journal of Clinical Research in Pediatric Endocrinology, 2019By Ahmet Can TurkogluFebruary 20, 2019

Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, and Bülent Hacıhamdioğlu

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