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The NCBI Handbook
An online guide to the use of NCBI resources. Titles of selected chapters that refer to human genome resources are shown below.
View PDF The Single Nucleotide Polymorphism Database (dbSNP) of Nucleotide Sequence Variation
Adrienne Kitts and Stephen Sherry
View PDF Online Mendelian Inheritance in Man (OMIM): A Directory of Human Genes and Genetic Disorders
Donna Maglott, Joanna S. Amberger, and Ada Hamosh
View PDF The SKY/CGH Database for Spectral Karyotyping and Comparative Genomic Hybridization Data
Turid Knutsen, Vasuki Gobu, Rodger Knaus, Thomas Ried, and Karl Sirotkin
View PDF Genome Assembly and Annotation Process
View PDF The Reference Sequence (RefSeq) Project
Kim D. Pruitt, Tatiana Tatusova, and Donna Maglott
View PDF Using the Map Viewer to Explore Genomes
Susan M. Dombrowski and Donna Maglott
View PDF UniGene: A Unified View of the Transcriptome
Joan U. Pontius, Lukas Wagner, and Gregory D. Schuler
View PDF Exercises: Using Map Viewer
David Wheeler, Kim Pruitt, Donna Maglott, Susan Dombrowski, and Andrei Gabrelian
Frequently Asked Questions
What is a reference sequence?
How many inherited diseases have a known sequence?
How is the human genome assembled and annotated?
How can I customize the Map Viewer display?
What classes of genetic variation are included in dbSNP?
How can I deposit gene expression data in a public database?
A challenge facing researchers today is that of piecing together and analyzing the plethora of data currently being generated through the Human Genome Project and scores of smaller projects. NCBI's Web site serves an an integrated, one-stop, genomic information infrastructure for biomedical researchers from around the world so that they may use these data in their research efforts. More...
A new database of genes and associated information is now available for searching in Entrez.
A database of single nucleotide polymorphisms (SNPs) and other nucleotide variations. OMIM
A guide to human genes and inherited disorders maintained by Johns Hopkins University and collaborators.
The database of Genotypes and Phenotypes (dbGaP) was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype.
NIH Epigenomics Roadmap
Reference epigenomic maps and studies on new epigenetic mechanisms and their relevance to human health.
Roadmap Epigenomics Data
A comprehensive listing of all NIH Roadmap Epigenomics datasets submitted to GEO and SRA.
Download DNA sequence
Download the complete DNA sequence of the human genome. BLAST the Genome
Compare your sequence to the genomic sequence and its products.
A centralized registry of genomic clones, end-sequences, mapping data, and distributor information.
An interactive viewer of physical and genetic maps, genomic sequence, genes, and other genomic annotations.
A non-redundant collection of STSs with links to maps and sequence.
Check your sequence for STSs and view in genomic context.
Marshfield Map Genethon Map
Stanford TNG RH Map
Stanford G3 RH Map
Whitehead YAC/RH Map
A computational system for organizing transcribed sequences into gene-based clusters.
cDNA Sequencing Projects
A user's guide to sequences and clone reagents produced by full-length cDNA projects.
Gene Expression Omnibus, a public repository for gene expression and hybridization data.
Gene expression results from SAGE tags mapped to mRNA sequences in GenBank.
Use of BAC clone CTD-3193o13 as a FISH probe in the analysis of chromosome aberrations associated with developmental abnormalities. Human BAC Resource
A cytogenetic resource of FISH-mapped, sequence-tagged BAC clones.
Spectral karyotyping and comparative genome hybridization data for studying chromosome abnormalities.
Putative orthologs based on large-scale comparative sequence analysis.
Computed blocks of conserved synteny between mouse and human.
Three-way view of genome similarities
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