Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family
Busra Gizem Kina, Nura Fitnat Topbas Selcuki, Pinar Yalcin Bahat, Taner Usta, Sevcan Aydin et al.
DetailsBusra Gizem Kina, Nura Fitnat Topbas Selcuki, Pinar Yalcin Bahat, Taner Usta, Sevcan Aydin et al.
DetailsEsra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas et al.
DetailsÖzlem Yalçın Çapan, Dilşad Türkdoğan, Sertaç Atalay, and Hande S. Çağlayan
DetailsThank you! You are here: Home Your submission was successful We’re thrilled to have received your application! Thank you for your interest in joining us. At Genomize, we are dedicated to providing our teammates with a supportive and stimulating work environment that encourages creativity, growth, and professional development. We’ll review your application promptly and…
DetailsÜmran Aba, İbrahim Cemal Maslak, Canberk İpşir, Damla Pehlivan, Nicholas I. Warnock et al.
DetailsAdvances in variant classification, computational tools, and collaborative data-sharing improve our diagnostic capabilities to resolve variants of uncertain significance (VUSs); genetic alterations that have unknown effects on patients’ health. These variants impact the decisiveness of genetic tests negatively by causing inconclusive reports.
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