Chapter 062. Principles of Human Genetics (Part 1) pdf

Chapter 062. Principles of
Human Genetics
(Part 1)

Table 62-1 Selected Databases Relevant for Genomics and Genetic
Disorders
Site URL Comment
National
Center for
Biotechnology
Information (NCBI)
Molecular
biology
information, public
databases,
computational
Site URL Comment
biology. Software
for analyzing
genome data.
Extensive
links to other
databases, genome
resources, and
tutorials
National
Hu
man Genome
Research Institute

Web links

providing
information about
the human genome
sequence, genomes
of other organisms,
and genomic
research
Site URL Comment
Ensembl
Genome browser

Maps and
sequence
information of
eukaryotic
genomes
Online
Mendelian
Inheritance in Man
Online
compendium of
Mendelian
disorders and
human genes
causing genetic
disorders
Office of
Biotechnology
Activities National
Institutes of Health

www4.od.nih.gov/oba/ Information
about recombinant
DNA and gene
transfer
Site URL Comment
Medical,
ethical, legal, and
social issues raised
by genetic testing
Medical,
ethical, legal, an
d
social issues raised
by
xenotransplantation

American
College of Medical
Genetics
Extensive
links to other
databases relevant
for the diagnosis,
treatment,
and
prevention of
genetic disease
Site URL Comment
Cancer
Genome Anatomy

Project (CGAP)
Information
about gene
expression profiles
of normal,
precancer, and
cancer cells
GenLink Multimedia
database resource
for human genetics
and telomere
research
GeneTests
International
directory of genetic
testing laboratories
and prenatal
diagnosis clinics
Site URL Comment
Reviews
and educational
materials
Genomes
Online Database
(GOLD)
Information
on published and
unpublished
genomes
HUGO Gene

Nomenclature

Gene names
and symbols
MITOMAP, a
human
mitochondrial
genome database
A
compendium of
polymorphisms
and mutations of
the human
mitochondrial
Site URL Comment
DNA
Mitochondrial
disorders
Overview
on clinical
syndromes
associated with
mtDNA mutations
DNA repeat
sequences & disease

/>
Overview
on clinical
syndromes

associated with
DNA repeats
Online
Mendelian
Inheritance in
Animals (OMIA)
Online
compendium of
Mendelian
disorders in
Site URL Comment
animals
The Jackson
Laboratory
Information
about murine

models and the
mouse genome
International
HapMap Project
Catalogue
of haplotypes in
different ethnic
groups relevant for
association studies
and
pharmacogenomics

Nuclear

Receptor Signaling
Atlas

Atlas of
nuclear receptors,
coregulators, and
Site URL Comment
ligands
Dolan DNA
Learning Center,
Cold Spring Harbor
Laboratories
Educational
material about
selected genetic
disorders, DNA,
eugenics, and
genetic origin
The Online
Metabolic and
Molecular Bases of
Inherited Disease
(OMMBID)
Online
version of the
comprehensive text
on The Metabolic
and Molecular
Bases of Inherited
Disease, 8e

Note: Databases are evolving constantly. Pertinent information may be
found by using links listed in the few selected databases. Instructions for the use of
genome-related databases have been published [Nat Genet 32(Suppl):1–79, 2002].