Edward V Ball

Ontology type: schema:Person     

Person Info


Edward V



Publications in SciGraph latest 50 shown

  • 2017-06 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies in HUMAN GENETICS
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-01 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine in HUMAN GENETICS
  • 2014-01 MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing in GENOME BIOLOGY
  • 2012-03 Insights into hominid evolution from the gorilla genome sequence in NATURE
  • 2011-12 Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations in HUMAN GENOMICS
  • 2011-11 Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques in NATURE BIOTECHNOLOGY
  • 2011-09 The functional spectrum of low-frequency coding variation in GENOME BIOLOGY
  • 2010-12 Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides in HUMAN GENOMICS
  • 2009-12 The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics in HUMAN GENOMICS
  • 2009-01 The Human Gene Mutation Database: 2008 update in GENOME MEDICINE
  • 2002 HGMD: The Human Gene Mutation Database in BIOINFORMATICS: DATABASES AND SYSTEMS
  • 2000-10 Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions in HUMAN GENETICS
  • Affiliations

  • Cardiff University (current)
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