Edward V. Ball - Researcher Profile | RDL Research Database

Publications

2 shown

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Peter D. Stenson , Matthew Mort , Edward V. Ball +3 more

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. By ...

2013 Human Genetics 1349 citations

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Yali Xue , Yuan Chen , Qasim Ayub +8 more

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 179 indivi...

2012 The American Journal of Human Genetics 277 citations

Frequent Co-Authors

Researcher Info

h-index: 2
Publications: 2
Citations: 1,626
Institution: Cardiff University

External Links

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Impact Metrics

h-index 2

h-index: Number of publications with at least h citations each.