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Precision Medicine Library Guide



Medical Genetics Search Filters for 




OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.


GeneReviews (NCBI), an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.


Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases.


Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health.



PubMed Clinical Queries (NCBI) provides a Medical Genetics search filter. You can run your search in the Clinical Queries search box and then limit to Medical Genetics. For a more comprehensive search use PubMed.


Public Health Genomics Knowledge Base (PHGKB) is an online, continuously updated, searchable database of published scientific literature, Centers for Disease Control and Prevention (CDC) resources, and other materials that address the translation of genomic discoveries into improved health care and disease prevention.



Centre for Genetics Education is a NSW state-wide education service dedicated to preparing health professionals who are non-genetics trained with the skills and knowledge to manage the impact of genetic and genomic technologies on their practice.


eviQ Cancer Treatments Online provides updated national protocols/guidelines for cancer genetic syndromes.


Genetic Alliance Australia (GA) endeavours to facilitate contact between families/individuals affected by the same, or similar condition, and/or provide information about relevant support groups both nationally and internationally. GA also deals with enquiries about services and facilitates ongoing support for individuals, families, health professionals and other interested groups. GA has an extensive rare disease database representing 1400 conditions and over 3500 individuals and families affected by genetic and rare conditions.


Human Genetics Society of Australasia (HGSA) provides a forum for the various disciplines collected under the title of Human Genetics.


RCPA Catalogue of local genetic tests and laboratories.


Australian Functional Genomics database *is coming soon. It will facilitate investigating pathogenic mechanisms of genes and variants identified in patients with rare diseases and cancer.This database is in development and will be launched in late 2017.



ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation.


dbGaP the database of Genotypes and Phenotypes (dbGaP) was developed to archive and distribute the data and results from studies that have investigated the interaction of genotype and phenotype in Humans.


Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.


Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect.


Genome organizes information on genomes including sequences, maps, chromosomes, assemblies, and annotations.



DECIPHER is used by the clinical community to share and compare phenotypic and genotypic data.


HGMD® The Human Gene Mutation Database represents an attempt to collate known (published) gene lesions responsible for human inherited disease (Public version freely available only to registered users).


LOVD stands for Leiden Open (source) Variation Database. LOVD provides a flexible, freely available tool for Gene- centered collection and display of DNA variations.


PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype- phenotype relationships. PharmGKB collects, curates and disseminates knowledge about the impact of human genetic variation on drug responses.


UCSC Genome Browser provides interactive visual genomic data, and includes a broad collection of vertebrate and model organism assemblies and annotations, along with a large suite of tools for viewing, analyzing and downloading data.University of California, Santa Cruz (UCSC).
1. Artist: Danielle Herrera

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