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