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The genetics of platelet count and volume in humans

机译:人类血小板计数和体积的遗传

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The last decade has witnessed an explosion in the depth, variety, and amount of human genetic data that can be generated. This revolution in technical and analytical capacities has enabled the genetic investigation of human traits and disease in thousands to now millions of participants. Investigators have taken advantage of these advancements to gain insight into platelet biology and the platelet's role in human disease. To do so, large human genetics studies have examined the association of genetic variation with two quantitative traits measured in many population and patient based cohorts: platelet count (PLT) and mean platelet volume (MPV). This article will review the many human genetic strategiesranging from genome-wide association study (GWAS), Exomechip, whole exome sequencing (WES), to whole genome sequencing (WGS)employed to identify genes and variants that contribute to platelet traits. Additionally, we will discuss how these investigations have examined and interpreted the functional implications of these newly identified genetic factors and whether they also impart risk to human disease. The depth and size of genetic, phenotypic, and other-omic data are primed to continue their growth in the coming years and provide unprecedented opportunities to gain critical insights into platelet biology and how platelets contribute to disease.
机译:过去十年中,人类基因数据的深度、种类和数量都发生了爆炸。这场技术和分析能力的革命使数千到现在数百万参与者能够对人类特征和疾病进行基因调查。研究人员利用这些进展深入了解血小板生物学和血小板在人类疾病中的作用。为了做到这一点,大型人类遗传学研究检验了遗传变异与在许多人群和基于患者的队列中测量的两个数量性状的关联:血小板计数(PLT)和平均血小板体积(MPV)。本文将回顾从全基因组关联研究(GWAS)、外显子机制、全外显子组测序(WES)到全基因组测序(WGS)的许多人类遗传策略,这些策略用于识别有助于血小板特性的基因和变体。此外,我们将讨论这些研究如何检验和解释这些新发现的遗传因素的功能含义,以及它们是否也会给人类疾病带来风险。遗传、表型和其他组学数据的深度和大小为它们在未来几年继续增长做好了准备,并提供了前所未有的机会来获得血小板生物学和血小板如何导致疾病的重要见解。

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