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

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

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...

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Main Authors: Bengisu Guner Yilmaz, Ozlem Akgun-Dogan, Ozkan Ozdemir, Bayram Yuksel, Ozden Hatirnaz Ng, Kaya Bilguvar, Beril Ay, Gulsah Sebnem Ozkose, Eylul Aydin, Ayca Yigit, Aybike Bulut, Fatma Nisa Esen, Serdar Beken, Selma Aktas, Atalay Demirel, Baran Cengiz Arcagok, Ebru Kazanci, İbrahim Bingol, Ozge Umur, Guntulu Sik, Ugur Isik, Melike Ersoy, Ayse Korkmaz, Agop Citak, Adil Mardinoglu, Ugur Ozbek, Yasemin Alanay
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-07-01
Series:Frontiers in Pediatrics
Subjects:
rapid genome sequencing
critically ill patient
pediatric intensive care unit
neonatal intensive care unit
trio sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1412880/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1412880/full

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