Research
Current research at TCAG centres around large-scale projects performed by facility personnel, including support of Genome Canada projects, and a significant focus on the genetics of autism spectrum disorders and structural variation of the human genome. Service work is also performed for over 600 other academic, private sector and government labs each year, drawn from 30 different countries and spanning a wide variety of research disciplines.
Past research at TCAG is reflected by numerous peer-reviewed scientific publications. In 2008, TCAG Scientific Directors, Associate Scientists and staff co-authored 58 peer-reviewed manuscripts dependent in some way (either entirely, or in part) on the platform infrastructure, as documented in PubMed. Since 2002, over 270 such papers have been published. Support of other researchers worldwide is found in many similar publications, with at least 145 papers in scholarly journals, book chapters, or graduate thesis dissertations acknowledging support or use of database resources during 2008 alone.
Historical papers include:
- Discovery of genes involved in predisposition to medulloblastoma (Michael Taylor and James Rutka with TCAG support)
- Gene identification in Shwachman-Diamond syndrome (with Johanna Rommens and others)
- Gene identification in Lafora Epilepsy (with Berge Minassian) and its canine counterpart
- A disease-relevant MECP2 isoform involved in Rett Syndrome
- Involvement of the SUMO4 gene in type I diabetes
- Severe expressive-language delay related to duplication of the Williams–Beuren locus
TCAG was also integral to publications describing the decoding of human chromosome 7, the discovery of large-scale copy number variation in the human genome, and the analysis of the first diploid human genome sequence (with the J. Craig Venter Institute).
Read more about this topic: The Centre For Applied Genomics
Famous quotes containing the word research:
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