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Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations

We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was...

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Detalles Bibliográficos
Autores principales: Halabi, Nour, Ramaswamy, Sathishkumar, El Naofal, Maha, Taylor, Alan, Yaslam, Sawsan, Jain, Ruchi, Alfalasi, Roudha, Shenbagam, Shruti, Bitzan, Martin, Yavuz, Lemis, Abulhoul, Hamda, Shankar, Shiva, Janjua, Dalwinder, Jadhav, Devendrasing, Al Maazmi, Munira Mahmoud, Abuhammour, Walid, Alsheikh-Ali, Alawi, Al Awadhi, Mohamed, Al Khayat, Abdulla, Abou Tayoun, Ahmad N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128109/
https://www.ncbi.nlm.nih.gov/pubmed/35606784
http://dx.doi.org/10.1186/s13073-022-01061-7