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 …

The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection
of data on germ‐line mutations in nuclear genes underlying or associated with human …

The Human Gene Mutation Database (HGMD ® ) is a comprehensive collection of germline
mutations in nuclear genes that underlie, or are associated with, human inherited disease. …

The Human Gene Mutation Database (HGMD ® ) constitutes a comprehensive collection of
published germline mutations in nuclear genes that underlie, or are closely associated with …

The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole‐…

The Human Gene Mutation Database (HGMD ® ) constitutes a comprehensive collection of
published germline mutations in nuclear genes that are thought to underlie, or are closely …

The Human Gene Mutation Database (HGMD ® ) is a comprehensive core collection of
germline mutations in nuclear genes that underlie or are associated with human inherited …

Gorillas are humans’ closest living relatives after chimpanzees, and are of comparable
importance for the study of human origins and evolution. Here we present the assembly and …

Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …

Background Whole exome sequencing studies identify hundreds to thousands of rare
protein coding variants of ambiguous significance for human health. Computational tools are …