… , where an ASO is used to correct splicing of the APOE gene encoding apolipoprotein E. …
EV Minikel has received funding for travel and/or speaker honoraria from Illumina and has …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the function …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …

Prion disease is a rare, fatal, and exceptionally rapid neurodegenerative disease. Although
incurable, prion disease follows a clear pathogenic mechanism, in which a single gene gives …

The last several years have seen unprecedented advances in deciphering the genetic
etiology of autism spectrum disorders (ASDs). Heritability studies have repeatedly affirmed a …

Purpose: The accurate interpretation of variation in Mendelian disease genes has lagged
behind data generation as sequencing has become increasingly accessible. Ongoing large …

More than 100,000 genetic variants are reported to cause Mendelian disease in humans,
but the penetrance—the probability that a carrier of the purported disease-causing genotype …

Accurate prediction of the functional effect of genetic variation is critical for clinical genome
interpretation. We systematically characterized the transcriptome effects of protein-truncating …

Purpose Whole-exome and whole-genome sequencing have transformed the discovery of
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …