Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report
Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, and A. Nazlı Başak
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AI-Driven NGS Data Analysis: A Variant Prioritization Pipeline for Precision Medicine
“We present an innovative Next Generation Sequencing (NGS) data analysis feature in the SEQ Platform that integrates Artificial Intelligence (AI) to create a highly efficient variant prioritization pipeline with a 97% successful variant prioritization rate. This transformative solution will streamline diagnostic procedures and accelerate the discovery of clinically relevant genetic variants, enhancing the precision and…
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Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
Hamide Betul Gerik-Celebi, Hilal Aydin, Hilmi Bolat and Gul Unsel-Bolat
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Clinical Heterogeneity in Patients with Long QTSyndrome and Segregation of Single NucleotideVariants and Clinical Symptoms in 17 AffectedFamilies
Elcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan et al.
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SEQ Platforms’s Extended Annotation: A Solution for Alternative Isoforms in NGS Data Analysis
“Alternative splicing is a common and essential mechanism seen in ~94% of human genes. With our Extended Annotation feature, we provide ACMG classifications for all alternative isoforms. Extended Annotation feature provides clinically relevant alterations that can affect diagnosis and treatment in NGS data analysis.” Alternative splicing allows a single gene to produce multiple protein isoforms…
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Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration
Seda Susgun, Mert Demirel, Gul Yalcin Cakmakli, Baris Salman, Kader K. Oguz, Bulent Elibol
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How Decreasing Genome Sequencing Costs Effects Clinical Genetics and Precision Medicine
The decreasing costs of genome sequencing are transforming clinical genetics and precision medicine by making genetic testing more affordable and accessible. Discover the factors behind these cost reductions and how they impact clinical genetics and the future of medicine in our latest article.
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FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
Aysel Tekmenuray Unal and Ceren Damla Durmaz
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Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, and Zuhal Yapıcı
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Why FastQ is a Better Starting Point for Clinical NGS Analysis?
Get insight about why FastQ file format is a superior starting point for clinical NGS data analysis compared to VCF. Take a look at the advantages of using raw sequencing data, including data completeness, customizable analysis, and the ability to detect novel genetic variants crucial in clinical contexts.
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