Each human carries a large number of deleterious mutations. Together, these mutations
make a significant contribution to human disease. Identification of deleterious mutations�…

Data on replacement mutations in genes of disease patients exist in a variety of online
resources. In addition, genome sequencing projects and individual gene sequencing efforts�…

We have assessed the numbers of potentially deleterious variants in the genomes of
apparently healthy humans by using (1) low-coverage whole-genome sequence data from�…

Prioritizing missense variants for further experimental investigation is a key challenge in
current sequencing studies for exploring complex and Mendelian diseases. A large number�…

VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for
identifying damaged genes and their disease-causing variants in personal genome�…

We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the�…

The separation of deleterious from benign mutations remains a key challenge in the
interpretation of genomic data. Computational methods used to sort mutations based on�…

Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of
variant deleteriousness that can effectively prioritize causal variants in genetic analyses�…

The human genome contains frequent single‐basepair variants that may or may not cause
genetic disease. To characterize benign vs. pathogenic missense variants, numerous�…

Background Recent advances in sequencing technologies have greatly increased the
identification of mutations in cancer genomes. However, it remains a significant challenge to�…