EMQN is a not-for-profit organisation promoting quality in molecular genetic testing through the provision of external quality assessment (proficiency testing schemes) and the organisation of best practice meetings and publication of guidelines.
DANAK is a Service Company handling the administration of accreditation and metrology in Denmark. In the international cooperation for accreditation (EA) the purpose is a harmonised interpretation and application of the international standards for accreditation of laboratories, certification and inspection bodies, and global recognition of accredited reports and certificates.
The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff
PolyPhen (Polymorphism Phenotyping) prediction of functional effect of human nsSNPs
SIFT (Sorting Intolerant From Tolerant). SIFT predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids.
Pmut is a software aimed at the annotation and prediction of pathological mutations
Splice Site Prediction by Neural Network
National Center for Biotechnology Information (NCBI) a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). A comprehensive collection of biomedical databases.
Orphanet is a database of information on rare diseases and orphan drugs for all publics. Orphanet includes links to national patient organisations in Europe.
UCSC Genome Browser website. This site contains the reference sequence and working draft assemblies for a large collection of genomes. It also provides a portal to the ENCODE project.
Ensembl Genome Browser
A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons.
The European Directory of DNA diagnostic Laboratories (EDDNAL) endeavours to disseminate information among medical genetics health-care professionals concerning the availability of DNA-based diagnostic services for rare genetic conditions in Europe.
The Human Genome Variation Society nomenclature recommandations.
GeneCards® is a searchable, integrated database of human genes that provides concise genomic, proteomic, transcriptomic, genetic and functional information on all known and predicted human genes.