Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Variants within non-coding genomic regions can greatly affect disease. In recent years,
increasing focus has been given to these variants, and how they can alter regulatory …

Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

Functional genomics data has the potential to increase GWAS power by identifying SNPs
that have a higher prior probability of association. Here, we introduce a method that …

The assessment of variant effect predictor (VEP) performance is fraught with biases
introduced by benchmarking against clinical observations. In this study, building on our …

The success of personalized genomic medicine depends on our ability to assess the
pathogenicity of rare human variants, including the important class of missense variation …

With expanding applications of next-generation sequencing in medical genetics, increasing
computational methods are being developed to predict the pathogenicity of missense …

To deal with the huge number of novel protein‐coding variants identified by genome and
exome sequencing studies, many computational variant effect predictors (VEPs) have been …

Advances in high-throughput DNA sequencing have revolutionized the discovery of variants
in the human genome; however, interpreting the phenotypic effects of those variants is still a …

Millions of human genomes and exomes have been sequenced, but their clinical
applications remain limited due to the difficulty of distinguishing disease-causing mutations …