Clinical Genomic Database (CGD)
A manually-curated database of all conditions with known genetic causes, focusing on the utility of genetic/genomic diagnosis and the availability of disease-specific interventions.
Red Cell Membrane Disorder Mutations Database
A database containing confirmed mutations to inherited disorders of the erythrocyte membrane associated with hemolytic anemia including Hereditary Spherocytosis (HS), Hereditary Elliptocytosis (HE) Hereditary Pyropoikilocytosis (HPP).
Supplementary material not available through publishers' Web sites for NHGRI manuscripts published from 2012-present.
A Bayesian genotype caller for NextGen sequencing data.
Conserved Domain-based Prediction (CDPred)
A computational algorithm that is designed to theoretically calculate the effect of substituting an amino acid relative to the reference sequence within functional modules - the protein domains.
A data management system designed to facilitate genetic studies of complex traits.