lunes, 3 de junio de 2013

Clinical Genomic Database. [Proc Natl Acad Sci U S A. 2013] - PubMed - NCBI

Clinical Genomic Database. [Proc Natl Acad Sci U S A. 2013] - PubMed - NCBI

Proc Natl Acad Sci U S A. 2013 May 21. [Epub ahead of print]

Clinical Genomic Database.


Medical Genetics Branch and Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.


Technological advances have greatly increased the availability of human genomic sequencing. However, the capacity to analyze genomic data in a clinically meaningful way lags behind the ability to generate such data. To help address this obstacle, we reviewed all conditions with genetic causes and constructed the Clinical Genomic Database (CGD) (, a searchable, freely Web-accessible database of conditions based on the clinical utility of genetic diagnosis and the availability of specific medical interventions. The CGD currently includes a total of 2,616 genes organized clinically by affected organ systems and interventions (including preventive measures, disease surveillance, and medical or surgical interventions) that could be reasonably warranted by the identification of pathogenic mutations. To aid independent analysis and optimize new data incorporation, the CGD also includes all genetic conditions for which genetic knowledge may affect the selection of supportive care, informed medical decision-making, prognostic considerations, reproductive decisions, and allow avoidance of unnecessary testing, but for which specific interventions are not otherwise currently available. For each entry, the CGD includes the gene symbol, conditions, allelic conditions, clinical categorization (for both manifestations and interventions), mode of inheritance, affected age group, description of interventions/rationale, links to other complementary databases, including databases of variants and presumed pathogenic mutations, and links to PubMed references (>20,000). The CGD will be regularly maintained and updated to keep pace with scientific discovery. Further content-based expert opinions are actively solicited. Eventually, the CGD may assist the rapid curation of individual genomes as part of active medical care.


genome sequencing, genomic medicine, whole-genome sequencing


[PubMed - as supplied by publisher]

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