Articles with "reference exome" as a keyword



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Reference exome data for a Northern Brazilian population

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Published in 2020 at "Scientific Data"

DOI: 10.1038/s41597-020-00703-y

Abstract: Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a… read more here.

Keywords: exome data; diagnosis rare; reference; data northern ... See more keywords