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

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

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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) http://www.ncbi.nlm.nih.gov/ 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 http://www.genome.gov/ Web links providing information about the human genome sequence, genomes of other organisms, and genomic research Site URL Comment Ensembl Genome browser http://www.ensembl.org/ Maps and sequence information of eukaryotic genomes Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/omim/ 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 http://www.acmg.net/ Extensive links to other databases relevant for the diagnosis, treatment, and prevention of genetic disease Site URL Comment Cancer Genome Anatomy Project (CGAP) http://cgap.nci.nih.gov/ Information about gene expression profiles of normal, precancer, and cancer cells GenLink http://www.genlink.wustl.edu Multimedia database resource for human genetics and telomere research GeneTests http://www.genetests.org/ International directory of genetic testing laboratories and prenatal diagnosis clinics Site URL Comment Reviews and educational materials Genomes Online Database (GOLD) http://www.genomesonline.org/ Information on published and unpublished genomes HUGO Gene Nomenclature http://www.gene.ucl.ac.uk/nomenclature Gene names and symbols MITOMAP, a human mitochondrial genome database http://www.mitomap.org/ A compendium of polymorphisms and mutations of the human mitochondrial Site URL Comment DNA Mitochondrial disorders http://www.neuro.wustl.edu/neuromuscular/mitosyn.html Overview on clinical syndromes associated with mtDNA mutations DNA repeat sequences & disease http://www.neuro.wustl.edu/neuromuscular/mother/dnarep.htm Overview on clinical syndromes associated with DNA repeats Online Mendelian Inheritance in Animals (OMIA) http://omia.angis.org.au/ Online compendium of Mendelian disorders in Site URL Comment animals The Jackson Laboratory http://www.jax.org/ Information about murine models and the mouse genome International HapMap Project http://www.hapmap.org/ Catalogue of haplotypes in different ethnic groups relevant for association studies and pharmacogenomics Nuclear Receptor Signaling Atlas http://nursa.org Atlas of nuclear receptors, coregulators, and Site URL Comment ligands Dolan DNA Learning Center, Cold Spring Harbor Laboratories http://www.dnalc.org/ Educational material about selected genetic disorders, DNA, eugenics, and genetic origin The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID) http://genetics.accessmedicine.com 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]. . Chapter 062. Principles of Human Genetics (Part 1) Table 62-1 Selected Databases Relevant for Genomics and Genetic Disorders. http://www.ncbi.nlm.nih.gov/omim/ 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 gene expression profiles of normal, precancer, and cancer cells GenLink http://www.genlink.wustl.edu Multimedia database resource for human genetics and telomere research

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