Anaemia-based screening for resistance to thyroid hormone alpha in children
Gözde Akın Kağızmanlı, Özgür Kırbıyık, Ayhan Abacı, Ece Böber, Uluç Yiş, Korcan Demir
DetailsGözde Akın Kağızmanlı, Özgür Kırbıyık, Ayhan Abacı, Ece Böber, Uluç Yiş, Korcan Demir
DetailsRare diseases” may seem straightforward, affecting a small percentage of the population, although definitions of rarity differ globally. For instance, the U.S. defines rare diseases as affecting fewer than 200,000 people, while the EU uses a prevalence criterion of fewer than 1 in 2,000. Additionally, rarity can be context-specific, varying across demographics and regions, emphasizing the intricate nature of these conditions.
DetailsAyça Şahin, Esmer Zeynep Duru Badakal, Müge Kovancılar Koç, Hilmi Uysal, and Ayşe Nazlı Başak
DetailsElif Bayraktar, Vildan Çiftçi, Hilmi Uysal, and A. Nazlı Başak
Details“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…
DetailsHamide Betul Gerik-Celebi, Hilal Aydin, Hilmi Bolat and Gul Unsel-Bolat
DetailsElcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan et al.
Details“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…
DetailsSeda Susgun, Mert Demirel, Gul Yalcin Cakmakli, Baris Salman, Kader K. Oguz, Bulent Elibol
DetailsThe 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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