Posts Tagged ‘moat’

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

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.

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome : Nature Genetics : Nature Publishing Group

March 26, 2016

Expanded seq. context model…explains variability in polymorphism[s] Reminiscent of GOR sec. structure prediction