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Found 7 result(s)

RAMEDIS

Rare Metabolic Diseases Database

Subject(s)
Content type(s)
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The RAMEDIS system is a platform independent, web-based information system for rare metabolic diseases based on filed case reports. It was developed in close cooperation with clinical partners to allow them to collect information on rare metabolic diseases with extensive details, e.g. about occurring symptoms, laboratory findings, therapy and molecular data.

Autism Chromosome Rearrangement Database

ACRD

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Content type(s)
Country
The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.

Fungal Genetics Stock Center

FGSC

Subject(s)
Content type(s)
Country
The Fungal Genetics Stock Center has preserved and distributed strains of genetically characterized fungi since 1960. The collection includes over 20,000 accessioned strains of classical and genetically engineered mutants of key model, human, and plant pathogenic fungi. These materials are distributed as living stocks to researchers around the world.

1000 Genomes

Thousand Genomes

Subject(s)
Content type(s)
Country
The 1000 Genomes Project is an international collaboration to produce an extensive public catalog of human genetic variation, including SNPs and structural variants, and their haplotype contexts. This resource will support genome-wide association studies and other medical research studies. The genomes of about 2500 unidentified people from about 25 populations around the world will be sequenced using next-generation sequencing technologies. The results of the study will be freely and publicly accessible to researchers worldwide. The International Genome Sample Resource (IGSR) has been established at EMBL-EBI to continue supporting data generated by the 1000 Genomes Project, supplemented with new data and new analysis.

Pseudomonas Genome DB

Pseudomonas Genome Database

Subject(s)
Content type(s)
Country
The Pseudomonas Genome Database collaborates with an international panel of expert Pseudomonas researchers to provide high quality updates to the PAO1 genome annotation and make cutting edge genome analysis data available.

TwinsUK

Subject(s)
Content type(s)
Country
The TwinsUK resource is the biggest UK adult twin registry of 14.000 twins used to study the genetic and environmental aetiology of age related complex traits and diseases.

Androgen Receptor Mutations Database

AR Gene Mutations Database

Subject(s)
Content type(s)
Country
Androgen Receptor Gene Mutations Database is for all who are interested in mutations of the Androgen Receptor Gene. In light of the difficulty in getting new AR mutations published the curator will now accept new mutations that have not been published, provided that it is from a reputable research or clinical laboratory. The curator also strongly suggests that where possible, particularly in the case of new unique mutations that an attempt be made to at least confirm the pathogenicity of the putatative mutation, by showing that the mutation when transfected into a suitable expression system produces a mutant androgen receptor protein.