Developing new analytic techniques for profiling language phenotypes in genetic research

这个项目迈出了第一步，研究我们的基因构成是如何决定我们使用语言的，这与我们的文化和心理环境是不同的。这样的研究最终可以帮助遗传学家筛选语言受到影响的各种情况，包括阿尔茨海默氏症、特殊语言障碍、自闭症、精神分裂症和抑郁症。它还有助于我们理解人类语言是如何进化的，并且这种分析方法可以应用于法医语言分析。由于实际原因，易于管理的语言定量测试（例如，平均话语/句子的长度；多项选择测试的分数；反应时间）在语言的心理和临床研究中受到青睐，但语言学家早就认识到，人类语言能力的特征在本质上是定性的，而不是定量的。目前还没有足够的方法来描述语言的定性方面，遗传学家可以使用，这个项目旨在确定分析方法，可以将语言的复杂性和丰富性转化为可计数的东西，以便计算数学概率（见目标1）。这些数据来自澳大利亚昆士兰州一个大型双胞胎研究队列的成员在17岁时写的600字的考试论文。这些文章将用于测试文本特征的量化或伪量化的广泛分析技术，从而形成每个主题的语言概况。这些论文本身就构成了一种优秀的语言资源，但它们的价值因其双胞胎研究的来源而成倍增强。双胞胎研究是探索基因和环境在一个变量中的作用的一种非常有效的方法。复杂的统计方法计算了同卵双胞胎（DNA完全相同）和异卵双胞胎（DNA的变化速率与非双胞胎兄弟姐妹相同）之间的变异量，同时考虑了他们作为兄弟姐妹的共同经历。使用发现最有效和实用的分析产生的个体受试者概况将传递给双胞胎研究合作者进行试验多变量分析，以查看它们是否有潜力作为遗传差异的外部标记（表型）（目标2）。这些试验分析太小，无法揭示真正的效果，但它们将建立输入值的稳健性。该项目的结果将是一小组分析，这些分析被认为有可能在未来的国际合作中进行更大规模的表型分析（目标3）。该项目旨在通过邀请分领域专家使用现有或新方法对数据进行小规模试验分析，最大限度地扩大专家投入的范围。外部贡献将由内部专家和早期职业人员补充，包括兼职研究助理，以创造一个令人兴奋的研究环境，促进创造力，并为初级同事提供机会和指导。该项目将推动医学人文学科新兴活动的边界（目标5），同时在语言定性特征的量化方面开辟新天地（目标4）。

This project takes a first step towards investigating how our genetic make-up, as distinct from our cultural and psychological environment, determines our use of language. Such research could ultimately help geneticists screen for a variety of conditions in which language is affected, including Alzheimer's, Specific Language Impairment, autism, schizophrenia and depression. It could also contribute to our understanding of how human language evolved, and the profiling methodology could be applied to forensic linguistic analyses. For practical reasons, easily administered quantitative tests of language (e.g. mean length of utterance/sentence; scores on multiple-choice tests; reaction times) have been favoured in psychological and clinical research into language, but linguists have long recognised that much of what characterises the human linguistic ability is qualitative in nature rather than quantitative. There are presently inadequate means for characterising the qualitative aspects of language in ways that geneticists can use, and this project aims to identify analytic approaches that can translate the complexity and richness of language into something countable, so that mathematical probabilities can be calculated (See Objective 1).The data are 600-word exam essays written at the age of 17 by members of a large Twin Study cohort in Queensland, Australia. These essays will be used to test a wide range of analytic techniques for the quantification or pseudo-quantification of features of the texts, resulting in a linguistic profile for each subject. The essays constitute an excellent linguistic resource in their own right, but their value is multiply enhanced by their Twin Study provenance. Twin studies are a highly effective way to explore the role of genes and environment in relation to a variable. Sophisticated statistical methods calculate the amount of variation between identical twins (who share all their DNA) and non-identical twins (whose DNA varies at the same rate as in non-twin siblings), while factoring in their shared experiences as siblings. The individual subject profiles that are produced using the analyses found to be most effective and practical to administer will be passed to the Twin Study collaborators for trial multivariate analyses, to see if they have potential as external markers (phenotypes) of genetic differences (Objective 2). These trial analyses will be too small to reveal genuine effects, but they will establish the robustness of the input values. The outcome of the project will be a small set of analyses judged to have potential for phenotyping on a larger scale in a future international collaboration (Objective 3). The project aims to maximise the range of expert input by inviting sub-field specialists to engage in small-scale trial analyses of the data using existing or new methods. The external contributions will be supplemented by those of in-house experts and early career staff, including a part time research assistant, to create an exciting research environment that fosters creativity and provides opportunities and mentoring for junior colleagues. The project will push the boundaries of the emerging activity in Medical Humanities (Objective 5), while breaking new ground in the quantification of qualitative features of language (Objective 4).