Full list of databases supported by the GCC
For a complete list please see http://wiki.gcc.rug.nl/wiki/MolgenisServers
Genome of the Netherlands (GoNL)
The Genome of the Netherlands project (GoNL) (‘het Genoom van Nederland’) is truly unique. Never before have so many genomes from one country been sequenced using a ‘trio’ design. By sequencing the genomes of 250 couples and their offspring (a trio comprises 2 parents and their offspring), this project has mapped the genetic variation present in the Netherlands.
LifeLines (in English and Dutch)
LifeLines is a multidimensional cohort study and biobank covering the northern Netherlands. It offers a unique data resource to study a broad scope of genetic and epigenetic, biomedical, environmental and psychosocial factors in relation to healthy ageing, disease development, and general well being.
The cohort was started in 2006 and aims to include 3 generations of family members and 'trios' (parents-child/parent-children). It is the largest population-based study in the Netherlands, with more than 167,000 participants who will be followed-up for 30 years.
With data from the 200FG and 500FG cohorts
This registry (https://www.deb-central.org/) aims to list all patients with dystrophic epidermolysis bullosa (DEB), both those published in the literature and unpublished contributions from collaborating EB centers. For all patients, detailed information is stored on their genotype, their clinical diagnosis and phenotypic features, and the results of immunofluorescence and electron microscopy studies on skin biopsies. The registry is open to all clinicians, researchers, and patients involved in DEB.
The DEB Register is a joint initiative of the International Dystrophic Epidermolysis Bullosa Patient Registry and the COL7A1 gene Variant Database (www.col7a1.org). It aims to provide one strong international register for all DEB patients and their COL7A1 mutations. This is work in progress and new updates and functionalities are added regularly. Currently, the register contains data on 1039 DEB patients and 659 COL7A1 sequence variants.
MMR Gene Unclassified Variants Database
This database is a work in progress. It contains information from functional assays and other types of data to support the clinical interpretation of MMR gene unclassified variants. The classifications given in this database with regard to pathogenicity (likely, unlikely or inconclusive) are primarily based on the outcome of functional tests. These classifications should be used for research purposes only and are not intended for clinical use.
FaCD can help clinicians and genetic counselors to make a genetic differential diagnosis in cancer patients. It also shows the tumor spectrum associated with hereditary disorders that have already been diagnosed in such patients.
This database contains information from clinical research and other types of data on variants found in genes causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, ARVD/C. The ARVD/C database is a useful tool for both researchers and clinicians. Mutations identified in patients can easily be found in the database, e.g. to verify if the mutation has been published before and whether the mutation is considered to be pathogenic.
L1CAM is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1CAM is located near the telomere of the long arm of the X chromosome at Xq28. Mutations in L1CAM can lead to L1 syndrome, an X-linked recessive disease with an incidence of one in every 30,000 males. The phenotypic spectrum includes X-linked Hydrocephalus, also referred to as Hydrocephalus due to Stenosis of the Aqueduct of Sylvius (HSAS, MIM #307000), MASA syndrome standing for Mental Retardation, Aphasia, Shuffling gait and Adducted thumbs (MIM #303350), X-linked complicated hereditary spastic paraplegia type 1 (SPG1, MIM # 303350) and X-linked complicated corpus callosum agenesis (X-linked ACC, MIM # 304100). Clinical variability is large between and sometimes within families.
|Laatst gewijzigd:||22 maart 2019 15:45|