Browsing by Subject "Whole genome sequencing"
Now showing items 1-4 of 4
-
Genotype-phenotype correlation identified a novel SARS-CoV-2 variant possibly linked to severe disease
(2021)Abstract: The geographic location and heterogeneous multi-ethnic population of Dubai (United Arab Emirates; UAE) provide a unique setting to explore the global molecular epidemiology of SARS-CoV-2 and relationship between ... -
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome
(2022)Abstract: Genetic variation in populations of Middle Eastern origin remains highly underrepresented in most comprehensive genomic databases. This underrepresentation hampers the functional annotation of the human genome ... -
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
(2022)Abstract: We describe a case series of fve infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Chil dren’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, ... -
A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting
(2021)Abstract: With limited access to trained clinical geneticists and/or genetic counselors in the majority of healthcare systems globally, and the expanding use of genetic testing in all specialties of medicine, many healthcare ...