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Speech and Language: Translating the Genome
Trends in Genetics ( IF 11.4 ) Pub Date : 2017-08-03 , DOI: 10.1016/j.tig.2017.07.002
Pelagia Deriziotis , Simon E. Fisher

Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.



中文翻译:

言语与语言:翻译基因组

人类语音和语言的生物学基础的研究正随着分子技术的发展而改变,包括高通量基因分型和下一代全基因组测序。这些进展为与语言有关的疾病(言语失用,特定语言障碍,发展性阅读障碍)的遗传结构提供了新的思路,也为普通人群中相关技能的变化做出了贡献。我们将讨论最先进的方法如何揭示一系列遗传机制,从效果显着的罕见突变到以微妙方式增加风险的常见多态性,同时融合在不同疾病之间共享的神经遗传途径。我们考虑该领域的未来,

更新日期:2017-08-03
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