[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
…, SA Rose, DM Ruderfer, K Shakir, PD Stenson… - Nature, 2016 - nature.com
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 …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
Human Gene Mutation Database (HGMD®): 2003 update
PD Stenson, EV Ball, M Mort, AD Phillips… - Human …, 2003 - Wiley Online Library
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 …
of data on germ‐line mutations in nuclear genes underlying or associated with human …
[HTML][HTML] The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized …
PD Stenson, M Mort, EV Ball, K Shaw, AD Phillips… - Human genetics, 2014 - Springer
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. …
mutations in nuclear genes that underlie, or are associated with, human inherited disease. …
[HTML][HTML] The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
The Human Gene Mutation Database (HGMD ® ) constitutes a comprehensive collection of
published germline mutations in nuclear genes that underlie, or are closely associated with …
published germline mutations in nuclear genes that underlie, or are closely associated with …
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
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‐…
identified in the human genome is increasing dramatically owing to advances in whole‐…
[HTML][HTML] The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans… - Human genetics, 2020 - Springer
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 …
published germline mutations in nuclear genes that are thought to underlie, or are closely …
[HTML][HTML] The human gene mutation database: 2008 update
PD Stenson, M Mort, EV Ball, K Howells, AD Phillips… - Genome medicine, 2009 - Springer
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 …
germline mutations in nuclear genes that underlie or are associated with human inherited …
[HTML][HTML] Insights into hominid evolution from the gorilla genome sequence
…, D Schmidt, K Shaw, JT Simpson, PD Stenson… - Nature, 2012 - nature.com
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 …
importance for the study of human origins and evolution. Here we present the assembly and …
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
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 …
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
[HTML][HTML] Identifying Mendelian disease genes with the variant effect scoring tool
Background Whole exome sequencing studies identify hundreds to thousands of rare
protein coding variants of ambiguous significance for human health. Computational tools are …
protein coding variants of ambiguous significance for human health. Computational tools are …