2005 Spring;33(1):79-88. doi: 10.1111/j.1748-720x.2005.tb00212.x.Mitchell R, Conley JM, Davis AM, Cadigan RJ, Dobson AW, Gladden RQ.Science. Information about genomic variation and its relationship to human healthDescriptions of genetic tests, submitted by test providersInformation about medical conditions with a genetic contributionConsumer-friendly information about the effects of genetic variation on human healthGene-focused genomic reference standard sequences that support reporting sequence variationInformation on assembly updates and issues from the international collaboration maintaining the human reference genome assemblyHuman genome assemblies, organization, statistics, and meta-dataAlign data to the human reference assembly, RefSeq, and more with BLASTAggregated information about genes and genome annotationRemap annotation data between different coordinate systems, including different assemblies and RefSeqGenesReference sequences for genomes, transcripts, proteins and moreHuman next generation sequence (NGS) transcriptome and genomic datasetsInformation on an international collaboration to consistently annotate human protein-coding genesAn international point-of-care resource that provides clinically relevant and medically actionable information for inherited conditionsBrowse and search a graphical view of the RefSeq annotated human reference genomeExplore variant calls, genotype calls and read alignments produced by the 1000 Genomes projectView, search, and navigate variations housed in dbSNP, dbVar, and ClinVar in genomic contextLearn 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.Ensuring that the reference assemblies continue to grow as our understanding of these genomes evolve.A tool that makes remapping features and annotations simple and straightforward.A public archive of the relationships between medically important variants and phenotypes. This site needs JavaScript to work properly. A free online resource that provides centralized access to comprehensive genetic test information voluntarily submitted by test providers.MedGen provides up-to-date information about human disorders and other phenotypes with a genetic component.Organism-centered listing of available genomic sequence records and projects Organism-centered listing of available genomic sequence records and projects Non-redundant genomic, RNA and protein sequence records, from microbes to humanA collection of sequences as foundation for gene-based coordinatesGraphical visualization of genotype data from the 1000 Genomes Project A tool for interactive examination and download of nucleotide variants for a specific locusAn online tool to view sequence- and marker-based genome maps in a single display Human gene banks. Name must be less than 100 characters Accession is the common term given to an individual sample in a gene bank, such as a distinct species or variety. But gene banks are more than just a global backup system for the next time the human race accidently deletes an important file. Manuel Caruso, Arthur Bank, Efficient retroviral gene transfer of a Tat-regulated herpes simplex virus thymidine kinase gene for HIV gene therapy, Virus Research, 10.1016/S0168-1702(97)00124-X, 52, 2, (133-143), (1997). 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 2011 Apr 15;332(6027):309-10. doi: 10.1126/science.1199554.Trends Biotechnol. By collecting the genetic master plans for the planet's plants and animals, we're better able to study the inner workings of the natural world.
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