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Bioinformatics

Clinical Resources - Genetics

 

  • ClinVar:  Aggregates information about genomic variation and its relationship to human health.  ClinVar collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. (description from NLM/NCBI)

               Getting started with ClinVar

  • dbGaP: Database of Genotypes and Phenotypes; Includes studies looking at the interactions between genotypes and phenotypes

dbGaP tutorial

The procedure to request access to dbGaP data can be found on the dbGaP page.

NIH's Genomic Data Sharing policy went into effect on January 25, 2015.  Information on the types of data included in this policy and how to comply with the policy can be found on the NIH's website.

  • GeneReviews®: Peer reviewed articles on inheritable diseases with information on diagnosis, management, and genetic counseling
  • GTR®:  Genetic Testing Registry; Genetic tests available and their usefulness, methodologies, and validity.  The information is supplied by the test providers.
  • MedGen:  Medical Genetics; can be used to search for clinical attributes that have a genetic component

               Getting started with MedGen

  • OMIM®: Online Mendelian Inheritance in Man® An Online Catalog of Human Genes and Genetic Disorders, maintained by Johns Hopkins University
  • PubMed Health: Information for consumers and clinicians on prevention and treatment of diseases and condition