Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.

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app
Our clinical tool, available via the website treatable-id.org, has a steady user base. Clinicians & scientists can use a mobile version of the tool by simply visiting the website from their device (phone or tablet).

As of last week the tool is available for IPhone and IPad via the App Store as well. Besides the diagnostic tool the app offers additional information on the TIDE program (news, the protocol, movies etc.). You can find the app in the App Store (via this link) and download it for free.
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MEshop
Compared to the human reference genome, a single exome can reveal over 120,000 variations. In order to facilitate the discovery of causal variations, filters such as frequency, mutation type, and mode of genetic inheritance are often employed. However, even after filtering for rare non-synonymous mutations, over 50 candidate genes may remain. Manually going over the literature for each gene and matching to the clinical phenotype is time consuming and inefficient.
To speed up the process of literature review, Warren Cheung from the Wasserman lab has designed a tool called MeSHOP.

The tool is useful when the researcher has a clinical phenotype in mind and wishes to know what genes are associated with that term. Simply supplied with a MeSH (Medical subject heading) reflecting the clinical phenotype, the program looks at the PubMed articles for each gene and extracts a list of over-represented MeSH terms. It then builds an internal “dictionary” based on that list and evaluates the strength of association between a gene and the input query. For output, the program summarizes a list of ranked genes predicted to be associated to the MeSH input above a chosen statistical threshold.
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checktide3
Some of our frequent visitors might have noticed that the lay out and 'feel' of this website has changed. Indeed it has!
Our 'old' Tide website was created with the grant application in mind and primarily used as a tool to convince the reviewers of the need of our TIDE project. Indeed we succeeded and since we've been busy starting the TIDE project in many different ways: the first patients have been enrolled into the program, the TIDE Complex Clinic is up & running, our App treatable-id.org has been introduced as a new diagnostic online tool & our database is filling up with patients.
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On november 10th 2011 the Clinical Tool "Treatable-ID" was officially launched at BC Children's. The App is accessible via www.treatable-id.org
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