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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.
by Adrienne Kitts
and Stephen Sherry
The Gene Expression Omnibus (GEO): A Gene Expression and
Hybridization Repository.
by Ron
Edgar and Alex Lash
Online Mendelian Inheritance in Man (OMIM): A Directory of
Human Genes and Genetic Disorders.
by
Donna Maglott, Joanna S. Amberger, and Ada Hamosh
The SKY/CGH Database for Spectral Karyotyping and Comparative
Genomic Hybridization Data.
by Turid
Knutsen, Vasuki Gobu, Rodger Knaus, Thomas Ried, and Karl
Sirotkin
Genome Assembly and Annotation Process.
by Paul Kitts
The
Reference Sequence (RefSeq) Project.
by Kim D. Pruitt, Tatiana Tatusova, and James M.
Ostell
LocusLink:
A Directory of Genes.
by Donna
Maglott
Using
the Map Viewer to Explore Genomes.
by
Susan M. Dombrowski and Donna Maglott
UniGene:
A Unified View of the Transcriptome.
by Joan U. Pontius, Lukas Wagner, and Gregory D.
Schuler
Exercises:
Using Map Viewer.
David Wheeler, Kim
Pruitt, Donna Maglott, Susan Dombrowski, and Andrei
Gabrelian
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 MapViewer
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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GENES AND HUMAN HEALTH |
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OMIM
A
guide to genes and inherited disorders maintained by JHU 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.
LocusLink
A
comprehensive catalog of genes and associated
information. |
THE GENOMIC SEQUENCE |
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 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 gene products.
Clone
Registry
A centralized registry of genomic clones,
end-sequences, mapping data, and distributor
information. |
MAPS AND MARKERS |
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MapViewer
An
interactive viewer for physical and genetic maps, genomic
sequence, genes, and other genome annotations.
Physical Maps
Whitehead
YAC/RH Map
Hudson
et al., 1995
Stanford
G3 RH Map
Stewart
et al., 1997
GeneMap'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 |
TRANSCRIBED SEQUENCES |
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UniGene
A
computational system for organizating 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. |
CYTOGENETICS |
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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. |
COMPARATIVE GENOMICS |
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HomoloGene
Putative
orthologs based on large-scale comparative sequence
analysis.
Homology
Map
Computed blocks of conserved synteny between mouse
and human.
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TaxPlot
Three-way
view of genome similarities 
Try these examples:
Human
vs mouse/rat
Human
vs mouse/fruit
fly
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