Overcoming constraints on the detection of recessive selection in human genes from population frequency data.
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability.
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
