Clinical & Variation Resources
- ClinVar Information about genomic variation and its relationship to human health
- Genetic Testing Registry (GTR) Descriptions of genetic tests, submitted by test providers
- MedGen Information about medical conditions with a genetic contribution
- Genetics Home Reference Consumer-friendly information about the effects of genetic variation on human health
- RefSeqGene Gene-focused genomic reference standard sequences that support reporting sequence variation
- dbSNP Database of small-scale sequence variations
- dbVar Database of genomic structural variation
Assemblies & Annotations
- Genome Reference Consortium (GRC) Information on assembly updates and issues from the international collaboration maintaining the human reference genome assembly
- Assembly Human genome assemblies, organization, statistics, and meta-data
- Genome Summary of genome-scale human data
- Blast Human Align data to the human reference assembly, RefSeq, and more with BLAST
- Gene Aggregated information about genes and genome annotation
- NCBI Genome Remapping Service Remap annotation data between different coordinate systems, including different assemblies and RefSeqGenes
- RefSeq Reference sequences for genomes, transcripts, proteins and more
- Sequence Read Archive (SRA) Human next generation sequence (NGS) transcriptome and genomic datasets
- GEO DataSets Curated human gene expression datasets
- UniGene Clustered transcripts and expression data
- CCDS Information on an international collaboration to consistently annotate human protein-coding genes
- GeneReviews An international point-of-care resource that provides clinically relevant and medically actionable information for inherited conditions
- Genome Data Viewer Browse and search a graphical view of the RefSeq annotated human reference genome
- 1000 Genomes Explore variant calls, genotype calls and read alignments produced by the 1000 Genomes project
- Variation Viewer View, search, and navigate variations housed in dbSNP, dbVar, and ClinVar in genomic context
- Map Viewer View RefSeq annotation of the human reference genome and map data from different coordinate systems
- Reference Genome Assembly GenBank unannotated human reference genome assembly provided by the GRC
- RefSeq Reference Genome Annotation RefSeq annotation of the human reference genome assembly provided by the GRC
- Reference Genome Analysis Sets Sequence data sets tailored for use by sequence read alignment programs
- ClinVar Download the full ClinVar dataset and summary files
- RefSeqGene Download RefSeqGene records and alignments
- RefSeq Transcripts & Proteins Download RefSeq transcript and proteins, and alignments to the genome
- dbSNP dbSNP data in various formats including VCF, BED, and XML
- dbVar dbVar data in various formats including VCF, BED, and XML
- SRA SRA Download Guide
- Learn how to access resources associated with human sequence variations and phenotypes associated with specific human genes and phenotypes.
- RefSeq biocurators focus on data curation for eukaryotic organisms, including several aspects of manual curation like sequence analysis, functional annotation, data validation and community collaboration.
Fact Sheets to Download (PDF)
- Genome Reference Consortium (GRC) Ensuring that the reference assemblies continue to grow as our understanding of these genomes evolve.
- Genome Remapping Service A tool that makes remapping features and annotations simple and straightforward.
- ClinVar A public archive of the relationships between medically important variants and phenotypes.
- Genetic Testing Registry (GTR) A free online resource that provides centralized access to comprehensive genetic test information voluntarily submitted by test providers.
- MedGen MedGen provides up-to-date information about human disorders and other phenotypes with a genetic component.
- Genome Organism-centered listing of available genomic sequence records and projects
- Eukaryotic Genome Annotation Organism-centered listing of available genomic sequence records and projects
- Reference Sequence Database (RefSeq) Non-redundant genomic, RNA and protein sequence records, from microbes to human
- RefSeqGene A collection of sequences as foundation for gene-based coordinates
- 1000 Genomes Browser Graphical visualization of genotype data from the 1000 Genomes Project
- Variation Viewer A tool for interactive examination and download of nucleotide variants for a specific locus
- Map Viewer An online tool to view sequence- and marker-based genome maps in a single display