Datasets

14 datasets

Organization: HealthData.Gov Tag: genetics Clear all

HealthData.Gov

The human genome revolution or evolution?

HTML

Updated Oct 29, 2026

HealthData.Gov

GenBank

NIH Genetic sequence database; an annotated collection of all publicly available DNA sequences.

HTML

Updated Oct 29, 2026

HealthData.Gov

Genetic Testing Registry (GTR)

Genetic Testing Registry (GTR) is a free, centralized voluntary registry of comprehensive genetic test information covering clinical and research tests for Mendelian disorders and drug responses including multigenic,…

HTML

Updated Oct 29, 2026

HealthData.Gov

RefSeq: NCBI Reference Sequence Database

A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.

HTML

Updated Oct 29, 2026

HealthData.Gov

SPDI Variation Service

This genetic variation services interconvert and transform short genetic variants between HGVS expressions, VCF format, and the new SPDI (Sequence Position Deletion Insertion) format, based on alignment datasets used by…

HTML

Updated Oct 29, 2026

HealthData.Gov

Database of Short Genetic Variations (dbSNP)

Database of Short Genetic Variations (dbSNP) contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence,…

HTML

Updated Oct 29, 2026

HealthData.Gov

Phenotype-Genotype Integrator (PheGenI)

Supports finding human phenotype/genotype relationships with queries by phenotype, chromosome location, gene, and SNP identifiers. Currently includes information from dbGaP, the National Human Genome Research Institute…

HTML

Updated Oct 29, 2026

HealthData.Gov

PopSet

The PopSet database is a collection of related DNA sequences derived from population, phylogenetic, mutation and ecosystem studies that have been submitted to GenBank.

HTML

Updated Oct 29, 2026

HealthData.Gov

Database of Genomic Structural Variation (dbVar)

Database of Genomic Structural Variation (dbVar) is NCBI's database of human genomic Structural Variation — large variants >50 bp including insertions, deletions, duplications, inversions, mobile elements,…

HTML

Updated Oct 29, 2026

HealthData.Gov

OMIM (Online Mendelian Inheritance in Man)

Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes.

HTML

Updated Oct 29, 2026

HealthData.Gov

MedGen

MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into…

HTML

Updated Oct 29, 2026

HealthData.Gov

Sequence Read Archive (SRA)

The Sequence Read Archive (SRA) stores sequencing data from the next generation of sequencing platforms including Roche 454 GS System®, Illumina Genome Analyzer®, Life Technologies AB SOLiD System®, Helicos Biosciences…

HTML

Updated Oct 29, 2026

HealthData.Gov

Database of Genotype and Phenotype (dbGaP)

Database of Genotype and Phenotype (dbGaP) was developed to archive and distribute the data and results from studies that have investigated the interaction of genotype and phenotype in Humans.

HTML

Updated Oct 29, 2026

HealthData.Gov

Consensus CDS (CCDS)

The Consensus CDS (CCDS) project is a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality. The long term goal is to support…

HTML

Updated Oct 29, 2026