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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2022-05-01
coleção:	Genome Medicine
Acesso em linha:	https://doi.org/10.1186/s13073-022-01061-7
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