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Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome

2021-05-17

Abstract excerpt

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 and challenges accurate clinical variant interpretation. To highlight the importance of capturing genetic variation in the Middle East, we aggregated whole exome and genome sequencing data from 2116 individu...

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Literature Corpus work
c0d10273-e829-5886-aeb3-3f51bb11cde1
DOI
10.1101/2021.05.15.444284
Open publication

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Middle Eastern Genetic Variation Improves Clinical Annotation of the Human GenomeDOI 10.1101/2021.05.15.444284
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