Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
Abstract
Clinical genetic testing has exponentially expanded in recent years, leading to an overwhelming amount of patient variants with high variability in pathogenicity and heterogeneous phenotypes. A large part of the variant level data is aggregated in public databases such as ClinVar. However, the ability to explore this rich resource and answer general questions such as ‘How many genes inside ClinVar are associated with a specific disease? or ‘In...
Paper Details
Title
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
Published Date
May 22, 2019
Journal
Volume
47
Issue
W1
Pages
W99 - W105
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