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Human Genome Resources
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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
Paul Kitts

View PDF  The Reference Sequence (RefSeq) Project
Kim D. Pruitt, Tatiana Tatusova, and James M. Ostell

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...




Gene Database
A new database of genes and associated information is now available for searching in Entrez.

RefSeq
Reference sequences of chromosomes, genomic contigs, mRNAs, and proteins for human and major model organisms.
  OMIM
A guide to human genes and inherited disorders maintained by Johns Hopkins University and collaborators.

dbSNP
A database of single nucleotide polymorphisms (SNPs) and other nucleotide variations.


Full-Length cDNA Clones

The NIH Mammalian Gene Collection (MGC) provides sequence-verified cDNA clone reagents for most human and mouse genes.

Molecular Probes

A new NCBI database provides sequences of molecular probes, their biomedical applications, and how to obtain reagents.



Download DNA sequence
Fifty years after the double helix, the reference DNA sequence of Homo sapiens is now available for downloading.
BLAST the Genome
Compare your sequence to the genomic sequence and its products.

Clone Registry
A centralized registry of genomic clones, end-sequences, mapping data, and distributor information.


Map Viewer
An interactive viewer of physical and genetic maps, genomic sequence, genes, and other genomic annotations.

UniSTS
A non-redundant  collection of STSs with links to maps and sequence.

Electronic PCR
Check your sequence for STSs and view in genomic context.

Linkage Maps
deCODE Map
Marshfield Map
Genethon Map

Physical Maps
Stanford TNG RH Map
Stanford G3 RH Map
Whitehead YAC/RH Map



UniGene
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.
GEO
Gene Expression Omnibus, a public repository for gene expression and hybridization data.

SAGEmap
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.

SKY/CGH
Spectral karyotyping and comparative genome hybridization data for studying chromosome abnormalities.


HomoloGene
Putative orthologs based on large-scale comparative sequence analysis.

Homology Map
Computed blocks of conserved synteny between mouse and human.


Resource Guides
Bos taurus
Canis familaris
Danio rerio
Mus musculus
Rattus norvegicus
Sus scrofa
Tax Plot
Three-way view of genome similarities



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