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Datasets

31 datasets

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,…

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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,…

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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…

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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.

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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…

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Updated Oct 29, 2026

HealthData.Gov

ClinVar

ClinVar aggregates information about genomic variation and its relationship to human health.

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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…

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Updated Oct 29, 2026

HealthData.Gov

Whole Genome Shotgun Submissions

Whole Genome Shotgun (WGS) projects are genome assemblies of incomplete genomes or incomplete chromosomes of prokaryotes or eukaryotes that are generally being sequenced by a whole genome shotgun strategy. WGS projects…

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Updated Oct 29, 2026

HealthData.Gov

Open Reading Frame Finder (ORF Finder)

A graphical analysis tool that finds all open reading frames in a user's sequence or in a sequence already in the database.

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Updated Oct 29, 2026

HealthData.Gov

UniGene archived data (RETIRED)

An automated analytical system for producing organized views of the transcriptome from a growing number of organisms. UniGene was retired in July 2019; however, you will continue to be able to access archived data.

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Updated Oct 29, 2026

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