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Found 10 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breakpoints and other genomic features, related to autism, taken from publicly available literature: databases and unpublished data.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.

Canadian Research Data Centre Network

CRDCN

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Research Data Centres offer a secure access to detailed microdata from Statistics Canada's surveys, and to Canadian censuses' data, as well as to an increasing number of administrative data sets. The search engine was designed to help you find out more easily which dataset among all the surveys available in the RDCs best suits your research needs.

International Mouse Phenotyping Consortium

IMPC

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The IMPC is a confederation of international mouse phenotyping projects working towards the agreed goals of the consortium: To undertake the phenotyping of 20,000 mouse mutants over a ten year period, providing the first functional annotation of a mammalian genome. Maintain and expand a world-wide consortium of institutions with capacity and expertise to produce germ line transmission of targeted knockout mutations in embryonic stem cells for 20,000 known and predicted mouse genes. Test each mutant mouse line through a broad based primary phenotyping pipeline in all the major adult organ systems and most areas of major human disease. Through this activity and employing data annotation tools, systematically aim to discover and ascribe biological function to each gene, driving new ideas and underpinning future research into biological systems; Maintain and expand collaborative “networks” with specialist phenotyping consortia or laboratories, providing standardized secondary level phenotyping that enriches the primary dataset, and end-user, project specific tertiary level phenotyping that adds value to the mammalian gene functional annotation and fosters hypothesis driven research; and Provide a centralized data centre and portal for free, unrestricted access to primary and secondary data by the scientific community, promoting sharing of data, genotype-phenotype annotation, standard operating protocols, and the development of open source data analysis tools. Members of the IMPC may include research centers, funding organizations and corporations.

Cystic Fibrosis Mutation Database

CFTR1

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The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.

Gemma

Tools and database for meta-analysis of functional genomics data

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Gemma is a database for the meta-analysis, re-use and sharing of genomics data, currently primarily targeted at the analysis of gene expression profiles. Gemma contains data from thousands of public studies, referencing thousands of published papers. Users can search, access and visualize co-expression and differential expression results.

DNAmod

DNA modification database

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Covalent DNA modifications have been found in numerous organisms and more are continually being discovered and characterized, as detection methods improve. Many of these modifications can affect the conformation of the DNA double helix, often resulting in downstream effects upon transcription factor binding. Some of these modifications have been demonstrated to be stable, while others are viewed as merely transient. DNAmod catalogues information on known DNA modifications, of which the well-known 5-methylcytosine is only one. It aims to profile modifications' properties, building upon data contained within the Chemical Entities of Biological Interest (ChEBI) database. It also provides literature citations and includes curated annotations on mapping techniques and natural occurrence information.

CanPath Portal

Canadian Partnership for Tomorrow’s Health Portal

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CanPath is Canada’s largest population health cohort and a national platform for population-level health research.It is a unique Canadian platform allowing scientists to explore the complex factors that contribute to disease. It is a deeply characterized cohort of individuals who have provided broad consent and now include two per cent of all Canadians between 30 and 74 years of age. CanPath can save researchers time — sometimes up to a decade — associated with arranging and measuring their own population samples. Researchers around the world can readily integrate CanPath data into their own studies. The standardization and harmonization of data across CanPath’s regional cohorts has been facilitated by Maelstrom Research.

The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

The Lafora Database

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A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) 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.

Phenylalanine Hydroxylase Locus Knowledgebase

PAHdb

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<<<!!!<<< This repository is no longer available. >>>!!!>>>

Androgen Receptor Mutations Database

AR Gene Mutations Database

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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.