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

Abstract 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 (r...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Nour Halabi, Sathishkumar Ramaswamy, Maha El Naofal, Alan Taylor, Sawsan Yaslam, Ruchi Jain, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Hamda Abulhoul, Shiva Shankar, Dalwinder Janjua, Devendrasing Jadhav, Munira Mahmoud Al Maazmi, Walid Abuhammour, Alawi Alsheikh-Ali, Mohamed Al Awadhi, Abdulla Al Khayat, Ahmad N. Abou Tayoun
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2022-05-01
Cyfres:Genome Medicine
Mynediad Ar-lein:https://doi.org/10.1186/s13073-022-01061-7
Tagiau: Ychwanegu Tag
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