Research at NHGRI
See Also: Online Research Resources
for Genetic and Genomic Researchers

Online Research Resources Developed at NHGRI

NHGRI Research Projects

  • Breast Cancer Information Core (BIC)
    A central repository for information regarding mutations and polymorphisms in breast cancer susceptibility genes.
  • 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.
  • Histone Sequence Database
    An updated collection of histone-fold containing proteins.
  • Homeodomain Resource
    An annotated collection of non-redundant protein sequences, three-dimensional structures, and genomic information for the homeodomain protein family.
  • Limb Morphology Database
    Standardized terms used to describe human morphology developed by an international group of clinicians working in the field of dysmorphology.
  • Mnemiopsis Genome Project Portal
    Access to the annotated Mnemiopsis genomic sequence, the first set of publicly available whole-genome sequencing data from any ctenophore species.
  • Multiplex Initiative
    A large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing for several common health conditions.
  • NHGRI Dog Genome Project
    A project to develop resources necessary to map and clone canine genes in an effort to utilize dogs as a model system for genetics and cancer research.
  • Pallister-Hall Syndrome
    Information for professionals and families caring for or affected by Pallister-Hall Syndrome.
  • Pigment Cell Gene Resource
    A centralized, comprehensive resource of published scientific data relevant to pigment cell biology.
  • 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
    Supplementary material not available through publishers' Web sites for NHGRI manuscripts published from 2012-present.
  • Zebrafish Insertion Collection (ZInC)
    A Web-based, searchable collection of zebrafish mutations generated by DNA insertion.

NHGRI-Developed Software and Analysis Tools

  • bam2mpg
    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.
  • GeneLink
    A data management system designed to facilitate genetic studies of complex traits.
  • Genometric Analysis Simulation Program (G.A.S.P.)
    A software suite that provides an interactive user interface for the mining and analysis of microarray gene expression data.
  • Graphical Assessment of Sliding P-values (GrASP)
    A graphical tool to present p-values from sliding-window haplotype tests of association.
  • ROMPrev
    A software suite for quantitative trait and locus-specific heritability estimation and association testing using the revised ROMP method.
  • Shimmer
    A tool for the detection of genetic alterations in tumors from Next Generation sequence data.
    A tool for scoring exonic variants for features associated with exon skipping and ectopic splice site creation.
  • SOOP
    A tool for the design and selection of overgo probes optimized for high-throughput comparative mapping.
  • SubmiRine
    A software package for predicting microRNA target site variants (miR-TSVs) from clinical genomic data sets.
  • Tiled Regression Analysis Package (TRAP)
    A software framework for selecting a set of genetic predictors which jointly explain trait variation with an additive regression model.
  • trieFinder
    A tool that rapidly maps sequence tags to RefSeq, UniGene, and genomic sequences, providing output amenable to both transcript quantification and the detection of novel transcripts.
  • Var-MD
    An annotation and analysis tool for next-generation sequencing variants in rare diseases and small pedigrees.
  • VarSifter
    A graphical java program designed to display, sort, filter, and generally sift variation data from massively parallel sequencing experiments.

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Last Updated: April 30, 2015