D.N. Cooper

Analysis of protein-coding genetic variation in 60,706 humans

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

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 ...

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...

The CpG dinucleotide and human genetic disease

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

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...

The human gene damage index as a gene-level approach to prioritizing exome variants

Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to se...

The Human Gene Mutation Database: 2008 update

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 inherite...

The functional spectrum of low-frequency coding variation