The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.
The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data set provided on this website spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. The ExAC Principal Investigators and groups that have contributed data to the current release are listed here.
The Movement Disorder Society Genetic mutation database (MDSGene) aims to provide a comprehensive, systematic overview of published data on movement disorder patients reported to carry causative gene mutations.
An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Find molecular databases & software tools with a combined search of the HSLS Online Bioinformatics Resource Collection (OBRC), Nucleic Acids Research, the BioMed Central Databases collection, and a filtered PubMed search.