Publications

Abstract

Genome-wide association studies using thousands to hundreds of thousands of single nucleotide polymorphism (SNP) markers and region-wide association studies using a dense panel of SNPs are already in use to identify disease susceptibility genes and to predict disease risk in individuals. Because these tasks become increasingly important, three different data sets were provided for the Genetic Analysis Workshop 15, thus allowing examination of various novel and existing data mining methods for both classification and identification of disease susceptibility genes, gene by gene or gene by environment interaction. The approach most often applied in this presentation group was random forests because of its simplicity, elegance, and robustness. It was used for prediction and for screening for interesting SNPs in a first step. The logistic tree with unbiased selection approach appeared to be an interesting alternative to efficiently select interesting SNPs. Machine learning, specifically ensemble methods, might be useful as pre-screening tools for large-scale association studies because they can be less prone to overfitting, can be less computer processor time intensive, can easily include pair-wise and higher-order interactions compared with standard statistical approaches and can also have a high capability for classification. However, improved implementations that are able to deal with hundreds of thousands of SNPs at a time are required.

Abstract

Although in many respects sign languages have a similar structure to that of spoken languages, the different modalities in which both types of languages are expressed cause differences in structure as well. One of the most striking differences between spoken and sign languages is the influence of the interface between grammar and PF on the surface form of utterances. Spoken language words and phrases are in general characterized by sequential strings of sounds, morphemes and words, while in sign languages we find that many phonemes, morphemes, and even words are expressed simultaneously. A linguistic model should be able to account for the structures that occur in both spoken and sign languages. In this paper, I will discuss the morphological/ morphosyntactic structure of signs in Nederlandse Gebarentaal (Sign Language of the Netherlands, henceforth NGT), with special focus on the components ‘place of articulation’ and ‘handshape’. I will focus on their multiple functions in the grammar of NGT and argue that the framework of Distributed Morphology (DM), which accounts for word formation in spoken languages, is also suited to account for the formation of structures in sign languages. First I will introduce the phonological and morphological structure of NGT signs. Then, I will briefly outline the major characteristics of the DM framework. Finally, I will account for signs that have the same surface form but have a different morphological structure by means of that framework.