Journal of Data Mining in Genomics & Proteomics

Jamie McDonald

Publications

• Research Article
  Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation
  Author(s): Whitney L. Wooderchak, Zacary Spencer, David K. Crockett, Jamie McDonald and Pınar Bayrak-ToydemirWhitney L. Wooderchak, Zacary Spencer, David K. Crockett, Jamie McDonald and Pınar Bayrak-Toydemir
  
  Mutations in the SMAD4 gene have been found in patients with Juvenile Polyposis Syndrome (JPS), patients with combined Juvenile Polyposis/ Hereditary Hemorrhagic Telangiectasia (JP/HHT) or patients with HHT, but without reported symptoms of juvenile polyposis. We have developed a publicly available, searchable SMAD4 database to aid in genotype/phenotype correlations, using the Human Genome Variation Society recommendations for mutation nomenclature and database content. The purpose of this database is to serve as a repository for all known SMAD4 mutations, variants of uncertain signi fi cance, or polymorphisms including sequence based changes and large deletion/ duplications that have been linked to JPS, JP/HHT, or HHT as well as any clinical information or signi fi cant literature related to the disorder. .. View More»
  DOI: 10.4172/2153-0602.1000101

  Abstract PDF