Genetics Resources for Clinicians
Guide Editor: Kristi Holmes
Resources:
| Blood Group Antigen Gene Mutation Database (BGMUT) The Blood Group Antigen Gene Mutation Database (BGMUT) was set up under the aegis of the Human Genome Variation Society (HGVS) in 1999. It documents variations in genes that directly or indirectly affect our blood groups. It thus is a locus-specific mutation database (LSDB) that covers multiple genes. The database was compiled and has been curated by Olga O. Blumenfeld, PhD, Department of Biochemistry and Santosh K. Patnaik, MD, PhD, Department of Cell Biology, Albert Einstein College of Medicine, New York, NY. In 2006, this website moved to the NCBI to become part of dbRBC. Many who are experts in the study of blood group systems, have contributed to the development of this database by providing, among other things, information on the systems and the alleles. |
| Cancer Genome Anatomy Project (CGAP) The Cancer Genome Anatomy Project (CGAP) is an interdisciplinary program established and administered by the National Cancer Institute (NCI) to generate the information and technological tools needed to decipher the molecular anatomy of the cancer cell. |
| dbGaP (database of Genotypes and Phenotypes) The database of Genotype and Phenotype (dbGaP) was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits. The advent of high-throughput, cost-effective methods for genotyping and sequencing has provided powerful tools that allow for the generation of the massive amount of genotypic data required to make these analyses possible. |
| dbMHC (human Major Histocompatibility Complex) The dbMHC database provides an open, publicly accessible platform for DNA and clinical data related to the human Major Histocompatibility Complex (MHC). |
| dbRBC (human Red Blood Cells) The dbRBC database provides an open, publicly accessible platform for DNA and clinical data related to the human Red Blood Cells (RBC). |
| Entrez SNP |
| GeneReviews GeneReviews is an online publication containing a collection of expert-authored, peer-reviewed descriptions of heritable diseases; these Reviews provide current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling of individuals and families with genetic diseases. |
| Genes and Disease Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter. With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites. You can browse through the articles online, and you can also download a printable file (PDF) of each chapter. |
| GeneTests By providing current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling, GeneTests promotes the appropriate use of genetic services in patient care and personal decision making. |
| Genetic Alliance Genetic Alliance is a coalition of more than 600 advocacy organizations serving 25 million people affected by 1000 conditions. The organization works to transform leadership in the genetics community to build capacity in advocacy organizations and to educate policymakers by leveraging the voices of individuals and families. Genetic Alliance increases the capacity of genetic advocacy organizations to achieve their missions and leverages the voices of millions of individuals and families living with genetic conditions. |
| Genetic Alliance Disease InfoSearch A website feature designed to help patients, care givers, health professionals, and others easily locate and navigate the vast array of information on genetic disorders that is available from the National Library of Medicine (NLM), a part of the National Institutes of Health (NIH). The ?portal? into NLM resources brings together, on one webpage, links to a wide range of information for patients and caregivers? from basic descriptions of a disease and its symptoms to the most current scientific research. It is designed to serve the needs of a broad spectrum of users, ranging from those who are just beginning to learn about a disorder to those who understand complex scientific information, including those who want to track emerging information over time. This valuable new resource was developed in collaboration with the National Center for Biotechnology Information (NCBI), a division of NLM that creates and maintains public databases of biomedical information. |
| Genetics Home Reference Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health. |
| Genome Variation Server (GVS) The Genome Variation Server (GVS) is a local database hosted by the SeattleSNPs Program for Genomic Applications (PGA). The objective of this database is to provide a simple tool for rapid access to human genotype data found in dbSNP, and to provide tools for analysis of genotype data. |
| HIV-1/Human Protein Interaction Database The goal of this project is to provide scientists in the field of HIV/AIDS research a concise, yet detailed, summary of all known interactions of HIV-1 proteins with host cell proteins, other HIV-1 proteins, or proteins from disease organisms associated with HIV/AIDS. To this end, the database has been designed to track the following information for each protein-protein interaction identified in the literature: NCBI Reference Sequence (RefSeq) protein accession numbers, NCBI Entrez Gene ID numbers, amino acids from each protein that are known to be involved in the interaction, brief description of the protein-protein interaction, keywords to support searching for interactions, and National Library of Medicine (NLM) PubMed identification numbers (PMIDs) for all journal articles describing the interaction. The information compiled into the database is made publicly available through the NCBI web site. |
| Immunoglobulin BLAST (IgBLAST) |
| Influenza Virus Resource Influenza Virus Resource presents data obtained from the NIAID Influenza Genome Sequencing Project as well as from GenBank, combined with tools for flu sequence analysis and annotation. In addition, it provides links to other resources that contain flu sequences, publications and general information about flu viruses. |
| Mitelman Database of Chromosome Aberrations in Cancer The information in the Mitelman Database of Chromosome Aberrations in Cancer relates chromosomal aberrations to tumor characteristics, based either on individual cases or associations. All the data have been manually culled from the literature by Felix Mitelman, Bertil Johansson, and Fredrik Mertens. |
| National Coalition for Health Professional Education in Genetics (NCHPEG) The National Coalition for Health Professional Education in Genetics (NCHPEG) is an "organization of organizations" committed to a national effort to promote health professional education and access to information about advances in human genetics. |
| NCBI Entrez bookshelf Online biomedical books relating to a number of different topics. |
| NCBI Gene Silencing Resource RNAi resources. |
| NCBI Probe Database The NCBI Probe Database is a public registry of nucleic acid reagents designed for use in a wide variety of biomedical research applications, together with information on reagent distributors, probe effectiveness, and computed sequence similarities. |
| OMIM (Online Mendelian Inheritance in Man) This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere. |
| Recurrent Chromosome Aberrations in Cancer The recurrent aberrations were derived from the Mitelman Database of Chromosome Aberrations in Cancer and include all cytogenetic changes present in at least two cases of the same morphologic entity, and, whenever applicable for solid tumors, within the same site. The complete karyotypes, patient characteristics, and references are found in the Mitelman Database of Chromosome Aberrations in Cancer. |
| Retroviruses A collection of resources at NCBI specifically designed to support the research of retroviruses. Includes: The resource also includes: the set of retrovirus complete genomes reference sequences, genotyping tool - uses the BLAST algorithm to identify the genotype of a query sequence; then aligns the query with a selected sequence, or with all sequences, alignment tool - aligns a query with the RefSeq, or with a selected sequence from a reference set, and short sequence BLAST for primer design BLAST. |
| Scriver's OMMBID: The Metabolic and Molecular Bases of Inherited Disease Researchers, educators, students, and clinicians have online access to a compendium of genetic disorders and information from the entire field of genetics. Using the site's interactive tools, subscribers quickly obtain answers to the molecular and metabolic underpinnings of a growing list of diseases as well as retrieve updates on pathophysiology and treatment. |
| SeattleSNPs SeattleSNPs is funded as part of the National Heart Lung and Blood Institute's (NHLBI) Programs for Genomic Applications (PGA). The SeattleSNPs PGA is focused on identifying, genotyping, and modeling the associations between single nucleotide polymorphisms (SNPs) in candidate genes and pathways that underlie inflammatory responses in humans. |
| SKY/M-FISH and CGH database The goal of the SKY/M-FISH and CGH database is to provide a public platform for investigators to share and compare their molecular cytogenetic data. The database is open to everyone and all users can view an individual investigator's public data or compare public cases from different investigators. Those wishing to contribute their own data must register and can choose to keep their data private for a period not to exceed two years. |
| The Genetic and Rare Diseases Information Center (GARD) The Genetic and Rare Diseases Information Center (GARD) employs experienced information specialists to answer questions in English and Spanish from the general public, including patients and their families, health care professionals and biomedical researchers. It was established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD). |
| WGA (Whole Genome Association) With the goal of accelerating the process of identifying genetic and environmental association with human disease, whole genome association studies involve large-scale genotype analysis of subjects who have been extensively characterized in clinical studies. These data sets represent the significant post-genomic step of relating the extensive work that has been done in genomics with important prospective cohort and case-control clinical studies. This pre-competitive data will allow investigators to focus on potential associations between specific genomic regions and well-characterized phenotypes accelerating the development of therapeutics. |
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