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Found 4 result(s)

Autism Chromosome Rearrangement Database

ACRD

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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breakpoints and other genomic features, related to autism, taken from publicly available literature: databases and unpublished data.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.

EyeGENE

The National Ophthalmic Genotyping and Phenotyping Network

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The eyeGENE® Research Resource is open for approved research studies. Application details here Researchers and clinicians are actively developing gene-based therapies to treat ophthalmic genetic diseases that were once considered untreatable.

ALSoD

ALS Online Database

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ALSoD is a freely available database that has been transformed from a single gene storage facility recording mutations in the SOD1 gene to a multigene ALS bioinformatics repository and analytical instrument combining genotype, phenotype, and geographical information with associated analysis tools. These include a comparison tool to evaluate genes side by side or jointly with user configurable features, a pathogenicity prediction tool using a combination of computational approaches to distinguish variants with nonfunctional characteristics from disease-associated mutations with more dangerous consequences, and a credibility tool to enable ALS researchers to objectively assess the evidence for gene causation in ALS. Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD.

TwinsUK

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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.