Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

• Main Authors: Bengisu Guner Yilmaz (Author), Ozlem Akgun-Dogan (Author), Ozkan Ozdemir (Author), Bayram Yuksel (Author), Ozden Hatirnaz Ng (Author), Kaya Bilguvar (Author), Beril Ay (Author), Gulsah Sebnem Ozkose (Author), Eylul Aydin (Author), Ayca Yigit (Author), Aybike Bulut (Author), Fatma Nisa Esen (Author), Serdar Beken (Author), Selma Aktas (Author), Atalay Demirel (Author), Baran Cengiz Arcagok (Author), Ebru Kazanci (Author), İbrahim Bingol (Author), Ozge Umur (Author), Guntulu Sik (Author), Ugur Isik (Author), Melike Ersoy (Author), Ayse Korkmaz (Author), Agop Citak (Author), Adil Mardinoglu (Author), Ugur Ozbek (Author), Yasemin Alanay (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2024-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

IntroductionRare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding...