18 research outputs found

    Querying large treebanks: Benchmarking GrETEL indexing

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    The amount of data that is available for research grows rapidly, yet technology to efficiently interpret and excavate these data lags behind. For instance, when using large treebanks for linguistic research, the speed of a query leaves much to be desired. GrETEL Indexing, or GrInding, tackles this issue. The idea behind GrInding is to make the search space as small as possible before actually starting the treebank search, by pre-processing the treebank at hand. We recursively divide the treebank into smaller parts, called subtree-banks, which are then converted into database files. All subtree-banks are organized according to their linguistic dependency pattern, and labeled as such. Additionally, general patterns are linked to more specific ones. By doing so, we create millions of databases, and given a linguistic structure we know in which databases that structure can occur, leading up to a significant efficiency boost. We present the results of a benchmark experiment, testing the effect of the GrInding procedure on the SoNaR-500 treebank.status: publishe

    Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

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    Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not all families. An association of WS symptoms with Hirschsprung disease (HSCR) has been reported in many families. We report here a patient with characteristics of WS2 and a de novo interstitial deletion of chromosome 13q. We also describe a family with two sibs who have both WS2 and HSCR. In this family, all possible genes for WS and HSCR, but not chromosome 13q, could be excluded. As an association between chromosome 13q and HSCR/WS has been reported previously, these data suggest that there is a gene on chromosome 13q that is responsible for WS or HSCR or both
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