A5031611329- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- Cystic Fibrosis Research Advances
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Neonatal Respiratory Health Research
- Congenital heart defects research
- CRISPR and Genetic Engineering
- Genetics, Bioinformatics, and Biomedical Research
- Nutrition, Genetics, and Disease
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- RNA modifications and cancer
- Genetic Associations and Epidemiology
- Congenital Ear and Nasal Anomalies
- Tracheal and airway disorders
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genomics and Phylogenetic Studies
- Bioinformatics and Genomic Networks
Johns Hopkins Medicine
2015-2024
Johns Hopkins University
2015-2024
Ontario Genomics
2021
Ontario Institute for Cancer Research
2021
Digital Research Alliance of Canada
2021
Charité - Universitätsmedizin Berlin
2014
Wellcome Sanger Institute
2014
University of Duisburg-Essen
2014
Max Planck Institute for Molecular Genetics
2014
Institute of Human Genetics
2014
Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes genetic disorders compiled to support genetics research education the practice clinical genetics. Started by Dr Victor A. McKusick as definitive reference Man, OMIM ( http://www.ncbi.nlm.nih.gov/omim/ ) now distributed electronically National Center for Biotechnology Information, where it integrated with Entrez suite databases. Derived from biomedical literature, written...
Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative and timely research resource of curated descriptions human genes phenotypes the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched January 2011. OMIM based on published peer-reviewed biomedical literature used by overlapping diverse communities clinicians, molecular biologists genome scientists, as well students teachers these disciplines. Genes are described...
Here, we describe an overview and update on GeneMatcher (http://www.genematcher.org), a freely accessible Web-based tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics. We created with goal identifying additional individuals rare phenotypes who had variants in same candidate disease gene. also wanted to facilitate connections basic scientists working orthologous genes model systems connecting their work human phenotypes. Meeting these goals will enhance identification...
Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference in Man, it now distributed electronically National Center for Biotechnology Information (NCBI). Material OMIM derived from biomedical literature written his colleagues at Johns Hopkins University elsewhere. Each entry has full text summary phenotype and/or gene copious links to other resources such...
Human Protein Reference Database (HPRD) is an object database that integrates a wealth of information relevant to the function human proteins in health and disease. Data pertaining thousands protein-protein interactions, posttranslational modifications, enzyme/substrate relationships, disease associations, tissue expression, subcellular localization were extracted from literature for nonredundant set 2750 proteins. Almost all was obtained manually by biologists who read interpreted >300,000...
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes genetic disorders compiled to support research education genomics the practice clinical genetics. Started by Dr Victor A. McKusick as definitive reference Man, OMIM (www.ncbi.nlm.nih.gov/omim) now distributed electronically National Center for Biotechnology Information (NCBI), where it integrated with Entrez suite databases. Derived from biomedical literature, written edited...
For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of field medical genetics. It initially cataloged known X-linked, autosomal recessive and dominant inherited disorders, but grew to be primary repository curated information on both genes genetic phenotypes relationships between them. Each phenotype gene is given a separate entry assigned stable, unique identifier. The entries contain structured summaries new important based expert review biomedical...
McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as book, Man, 1966. The content OMIM is derived exclusively from the biomedical literature updated daily. It currently contains 18,961 full-text entries describing phenotypes genes. To date, 2239 have mutations causing disease, 3770 diseases molecular basis. Approximately 70 new are added 700 per month. expanding organization...
Mice deficient in Klotho gene expression exhibit a syndrome resembling premature human aging. To determine whether variation the KLOTHO locus contributes to survival, we applied two newly characterized polymorphic microsatellite markers flanking population-based association study. In cohort chosen for its homogeneity, Bohemian Czechs, demonstrated significant differences selected marker allele frequencies between newborn and elderly individuals ( P < 0.05). These results precipitated...
Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease usually due to bone marrow failure, but idiopathic pulmonary fibrosis an increased cancer predisposition also occur. Families with autosomal dominant dyskeratosis display anticipation have mutations in the telomerase RNA gene. We identified three-generation pedigree congenita, anticipation, telomere shortening. show that null mutation motif D of reverse...
There are few better examples of the need for data sharing than in rare disease community, where patients, physicians, and researchers must search "the needle a haystack" to uncover rare, novel causes within genome. Impeding pace discovery has been existence many small siloed datasets individual research or clinical laboratory databases and/or disease-specific organizations, hoping serendipitous occasions when two distant investigators happen learn they have phenotype common can "match"...
Provision of a molecularly confirmed diagnosis in timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, fosters counseling respect to recurrence risks while assuring reproductive choices. In general clinical genetics setting, the current diagnostic rate is approximately 50%, but those who do not receive molecular after initial evaluation, that much lower. Diagnostic success these more challenging affected...
The combination of intravenous sodium phenylacetate and benzoate has been shown to lower plasma ammonium levels improve survival in small cohorts patients with historically lethal urea-cycle enzyme defects.
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map Genome) classifying naming newly recognized disorders is growing rapidly. Establishing relationship genotype phenotype has become increasingly complex. New technologies such as genome-wide studies (GWAS) array comparative genomic hybridization (aCGH) define "risk alleles" that are inherently prone to substantial interpretation modification. In addition, whole exome genome sequencing...
Abstract In biology and biomedicine, relating phenotypic outcomes with genetic variation environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants be in genes that haven’t been characterized, research organisms recapitulate human or veterinary affecting disease are unknown undocumented, many resources must queried to find potentially significant associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on...
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical genomic data through both harmonized aggregation federated approaches. decreasing cost sequencing (along with other genome-wide molecular assays) increasing evidence its utility will soon drive generation sequence from tens millions humans, levels diversity. In this perspective, we present GA4GH strategies addressing major challenges revolution. We...