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 …

… Notable examples of clinically significant DFPs present in HGMD include the DPYD allele
p.Cys29Arg (global MAF 0.28) which may be relevant for 5-fluorouracil toxicity and F5 p.…

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 …

… where P w and P m represent the underlying probabilities for the wild-type and mutant
amino acid residues, respectively, and the pathogenicity weights, W d and W n , represent the …

… Peter D Stenson … Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells,
Andrew D Phillips, Nick ST Thomas & David N Cooper … Peter D Stenson …

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 …

… We define p nk as the proportion of class k observations (y i ) in node n. The Gini index for
a specific node is the sum of the variance in proportion for all classes (K). The Gini importance …

… to assign p-values to predictions. In order to identify the causal genes, we aggregated VEST
p-… The results of the simulations support the potential of our p-value-based gene score to …