It looks like you're using Internet Explorer 11 or older. This website works best with modern browsers such as the latest versions of Chrome, Firefox, Safari, and Edge. If you continue with this browser, you may see unexpected results.
o Summaries of medical genetics information compiled from GeneReviews, OMIM, ClinVar, Genetic Testing Registry, and PubMed.
o Search for a gene, genetic disorder, or clinical feature.
o Links to practice guidelines.
o Point-of-care information for inherited conditions - diagnosis, management, and genetic counseling information.
o Peer-reviewed chapters typically focus on a single gene or phenotype/disorder.
o Curated database of scientific literature, guidelines, and commentaries that address the translation of genomic discoveries into improved health care and disease prevention.
Locate a MeSH term that describes the topic you're interested in, and then add the "genetics" subheading. For example: "Cardiomyopathy, Hypertrophic/genetics"[Mesh]
Provides an overview of the next-generation sequencing (NGS) technologies that are used in clinical diagnostic laboratories. Also focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting.
o Predicts possible impact of an amino acid substitution on the structure and function of a human protein.
Health Sciences Library | 1959 NE Pacific Street, T334 Health Sciences Building, Box 357155, Seattle, WA 98195-7155 USA, 206-543-3390 | Privacy | Terms
Text on this page created by UW Libraries is licensed under a CC BY-NC 4.0 license. Images and video are not included. See details.