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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
Related Resources
- 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
- 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
View
- 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
Learn
Featured Webinars
-
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.
Video Tutorials
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