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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
- 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
- Assembly Human genome assemblies, organization, statistics, and meta-data
- Genome Summary of genome-scale human data
- Gene Aggregated information about genes and genome annotation
- KOK体育官方网站 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
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- 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聽1000 Genomes project
- Variation Viewer View, search, and navigate variations housed in dbSNP, dbVar, and ClinVar in genomic context
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Featured Webinars
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