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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 ...
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 ...