NAR Breakthrough Article: denovo-db: a compendium of human de novo variants

April 3, 2017

.@denovodb: a compendium of [initially ~33K] human de novo variants w. phenotype, freely downloadable as a TSV table
https://academic.OUP.com/nar/article-lookup/doi/10.1093/nar/gkw865

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As of July 2016, denovo-db contained 40 different studies and 32,991 de novo variants from 23,098 trios. Database features include basic variant information (chromosome location, change, type); detailed annotation at the transcript and protein levels; severity scores; frequency; validation status; and, most importantly, the phenotype of the individual with the variant.
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denovo-db.gs.washington.edu/denovo-db/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210614/

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