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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.
The Single Nucleotide Polymorphism Database (dbSNP) of Nucleotide Sequence Variation
Adrienne Kitts and Stephen Sherry
Online Mendelian Inheritance in Man (OMIM): A Directory of Human Genes and Genetic Disorders
Donna Maglott, Joanna S. Amberger, and Ada Hamosh
The SKY/CGH Database for Spectral Karyotyping and Comparative Genomic Hybridization Data
Turid Knutsen, Vasuki Gobu, Rodger Knaus, Thomas Ried, and Karl Sirotkin
Genome Assembly and Annotation Process
Paul Kitts
The Reference Sequence (RefSeq) Project
Kim D. Pruitt, Tatiana Tatusova, and James M. Ostell
LocusLink: A Directory of Genes
Donna Maglott
Using the Map Viewer to Explore Genomes
Susan M. Dombrowski and Donna Maglott
UniGene: A Unified View of the Transcriptome
Joan U. Pontius, Lukas Wagner, and Gregory D. Schuler
Exercises: Using Map Viewer
David Wheeler, Kim Pruitt, Donna Maglott, Susan Dombrowski, and Andrei Gabrelian
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Frequently Asked Questions
What is a reference sequence?
How are gene symbols chosen for LocusLink and RefSeq?
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?
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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...
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OMIM
A guide to human genes and inherited disorders maintained by Johns Hopkins University
and collaborators.
RefSeq
Reference sequences of chromosomes, genomic contigs,
mRNAs, and proteins for human and major model organisms.
dbSNP
A database of single nucleotide polymorphisms (SNPs)
and other nucleotide variations.
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Gene Database
A new database of genes and associated information is
now available for searching in Entrez.
Locus Link
A comprehensive catalog of genes and other genetic
loci.
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Download DNA sequence
Fifty years after the double helix, the reference DNA sequence of Homo sapiens
is now available for downloading.
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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.
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Map Viewer
An interactive viewer of physical and genetic maps,
genomic sequence, genes, and other genomic annotations.
Physical Maps
Whitehead YAC/RH Map
Hudson et al., 1995
Stanford G3 RH Map
Stewart et al., 1997
Gene Map'99
Deloukas et al., 1998
Stanford TNG RH Map
Olivier et al., 2001
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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.
Genetic Maps
Genethon Map
Dib et al., 1996
Marshfield Map
Broman et al., 1998
deCODE Map
Kong et al., 2002
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UniGene
A computational system for organizing transcribed
sequences into gene-based clusters.
Full-Length cDNAs
A user's guide to sequences and clone reagents produced by full-length cDNA projects.
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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.
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Use of BAC clone CTD-3193o13 as a FISH probe in the analysis of chromosome
aberrations associated with developmental abnormalities.
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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.
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Genomic Biology
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Resource Guides
