User profiles for "author:David N Cooper"
 | David N. CooperProfessor of Human Molecular Genetics, Cardiff University, UK Verified email at cardiff.ac.uk Cited by 108550 |
[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
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …
collection of published germline mutations in nuclear genes that are thought to underlie, or …
[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
Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive 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] 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
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
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
Abstract The Human Gene Mutation Database (HGMD) constitutes a comprehensive core
collection of data on germ‐line mutations in nuclear genes underlying or associated with …
collection of data on germ‐line mutations in nuclear genes underlying or associated with …
MutationTaster2: mutation prediction for the deep-sequencing age
We compared the predictions of the web versions of MutationTaster2, SIFT (http://sift. jcvi.
org/), PolyPhen-2 (http://genetics. bwh. harvard. edu/pph2/) and PROVEAN (http://provean …
org/), PolyPhen-2 (http://genetics. bwh. harvard. edu/pph2/) and PROVEAN (http://provean …
A systematic survey of loss-of-function variants in human protein-coding genes
Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
M Krawczak, J Reiss, DN Cooper - Human genetics, 1992 - Springer
A total of 101 different examples of point mutations, which lie in the vicinity of mRNA splice
junctions, and which have been held to be responsible for a human genetic disease by …
junctions, and which have been held to be responsible for a human genetic disease by …
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: 2008 update
PD Stenson, M Mort, EV Ball, K Howells, AD Phillips… - Genome medicine, 2009 - Springer
Abstract 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 …
of germline mutations in nuclear genes that underlie or are associated with human inherited …