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Next-generation genotype imputation service and methods

机译:下一代基因型估算服务和方法

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摘要

Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.
机译:基因型归因是遗传关联研究的关键组成部分,它可以提高功能,促进荟萃分析并帮助解释信号。基因型插补在计算上要求很高,并且使用当前工具通常需要访问高性能计算集群和已测序基因组的参考面板。在这里,我们介绍了归位机械的改进,与标准归位工具相比,该改进将计算要求降低了一个数量级以上,并且没有精度损失。我们还将介绍一种新的基于网络的插补服务,该服务可简化对新参考面板的访问,并大大提高用户体验和生产力。

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