Browsing by Subject "Whole exome sequencing"
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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 ... -
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 ...