NCBI Clinical Database Overview скачать в хорошем качестве

NCBI Clinical Database Overview

This video, part of the Bioinformatics and Biology Essentials for Librarians course from the Network of the NLM, provides an overview of three NCBI clinical databases: MedGen, ClinVar and Genetic Testing Registry (GTR). Allow pop-ups and try these yourself using the NLM Navigators: MedGen: https://www.nlm.nih.gov/oet/ed/naviga... ClinVar:https://www.nlm.nih.gov/oet/ed/naviga... GTR: https://www.nlm.nih.gov/oet/ed/naviga... For more, see the NLM Learning Resources Database: https://learn.nlm.nih.gov/ Key Points MedGen: Phenotypes (diseases or conditions) and vocabulary Terms and vocabularies from several sources (GTR, Unified Medical Language System, etc.); other data sources (OMIM, GeneReviews, Genetics Home Reference) ClinVar: Submitted human genetic variants and their relationships to disease Records represent assertions about phenotype associated with genetic variants For large scale (copy number) variants, see dbVar For small scale variants, see dbSNP For clinically-relevant, see ClinVar Sources include literature (OMIM), genetic testing consortia and individual labs Genetic Testing Registry (GTR): Submission-driven database of genetic tests (with limited NCBI curation) Intended for clinicians Can search and order tests