See Also:
Online Research Resources
for Genetic and Genomic Researchers
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. - 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. - Lowe Syndrome Mutation Database
A database of mutations causing Lowe syndrome. - Multiplex Initiative
A large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing for several common health conditions. - The 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).
- X-Linked SCID Mutation Database (IL2RGbase)
A database of mutations that cause X-linked severe combined immunodeficiency (XSCID or X-SCID).
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.
- ENCODEdb
A portal providing users a single, unified point-of-access to data generated by the ENCODE Pilot Project.
- 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.
- SKIPPY
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.
- 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. -
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.
Last Updated: January 5, 2012