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A method for risk prediction and medication guidance of osteoporosis based on exome analysis and panel design

机译:基于外显子组分析和面板设计的骨质疏松症风险预测和药物指导方法

摘要

#$%^&*AU2018100319A420180412.pdf#####Abstract This invention provides a method for risk prediction and medication guidance of osteoporosis based on exome analysis and panel design. Firstly, we selected 43 genes related to osteoporosis or treatment of osteoporosis to design a panel. Then by using BWA, Picard-tools, GATK, and Annovar, a individual's genetic variants can be found, the steps of which includes mapping, preprocessing, variants calling, variants filtration, and annotation. Finally, a Perl program we designed can be used to select target region so that we have an insight into genetic information related to osteoporosis of the individual and help to achieve the tailored therapy. 1
机译:#$%^&* AU2018100319A420180412.pdf #####抽象本发明提供了用于风险预测和药物治疗的方法外显子组分析和面板设计为骨质疏松症提供指导。首先,我们选择了43个与骨质疏松症或骨质疏松症设计面板。然后使用BWA,Picard工具,GATK,和Annovar,可以找到一个人的遗传变异,其中包括映射,预处理,变体调用,变体过滤和注释。最后,我们设计的Perl程序可以用于选择目标区域,以便我们深入了解遗传与个人骨质疏松症有关的信息并有助于实现量身定制的疗法。1个

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