【摘 要】
：
Next-generation sequencing technologies have significantly accelerated the identification of disease-causing mutations and facil-itated the emergence of personalized medicine (Genomes Project Consortium et al.,2015;Goodwin et al.,2016;Sirugo et al.,2019).
【机 构】
：
State Key Laboratory of Genetic Engineering,Collaborative Innovation Center for Genetics and Develop
论文部分内容阅读
Next-generation sequencing technologies have significantly accelerated the identification of disease-causing mutations and facil-itated the emergence of personalized medicine (Genomes Project Consortium et al.,2015;Goodwin et al.,2016;Sirugo et al.,2019).In comparison with whole-genome sequencing,whole-exome sequencing (WES),which covers the coding regions of the genome,offers a cost-efficacy balance.WES provides deeper sequencing depth (＞100×) and allows the more accurate detection of rare vari-ants that are tailored for clinical applications (Lek et al.,2016).
其他文献
在互联网不断深入回收行业的大背景下,考虑消费者对回收渠道的偏向问题,假设消费者不同的回收行为情境,建立回收决策模型,探讨消费者回收行为对回收商、处置商回收决策的影响.研究结果表明:双渠道竞争回收时的回收价格、回收数量,在一定范围内均高于单一的传统渠道回收和双渠道合作回收,同时,网络回收渠道的回收价格始终高于传统回收渠道的回收价格.考虑回收市场的持续性,回收商-处置商联盟回收方式具有最佳的回收价格、回收数量及回收主体利润决策.研究结论丰富了回收主体决策的理论内涵,对国内废旧家电回收处理体系的构建具有一定的理
In plants,transposable element (TE)-triggered mutants are important resources for functional genomic studies.However,conventional approaches for genome-wide identification of TE insertion sites are costly and laborious.This study developed a novel,rapid,a
基于数值模拟与理论分析,研究了含周期性椭圆孔二维结构的屈曲行为.针对不同的屈曲模态,建立理论模型进行模态分析.结果 表明,改变孔的几何参数,椭圆孔结构的屈曲模态会随之发生转换,理论分析与数值结果吻合良好.此外,在数值模拟中,与位移加载不同,负压激励下的单胞需要考虑力边界条件的修正,以确保其满足完备性条件.已有工作在单胞选择中常存在问题,导致错误结果.针对上述问题研究了不同单胞所对应的边界条件,并结合有限结构进行了分析与讨论.
Enhancers modulate gene expression by interacting with promoters.Models of enhancer-promoter in-teractions (EPIs) in the literature involve the activity of many components,including transcription factors and nucleic acid.However,the role that sequence sim
Exposure to intense noise can damage cochlear hair cells,leading to hearing loss in mammals.To avoid this constraint,most mammals have evolved in relatively quiet environments.Echolocating bats,however,are naturally exposed to continuous intense sounds fr
L-Arginine is the precursor of nitric oxide (NO),a host immune effector against intracellular pathogens including Mycobacterium tuberculosis (M.tb).Pathogens including M.tb have evolved various strategies targeting arginine to block the production of NO f
The nucleolus,as the \'nucleus of the nucleus\',is a prominent subcellular organelle in a eukaryocyte.The nucleolus serves as the centre for ribosome biogenesis,as well as an important site for cell-cycle regu-lation,cellular senescence,and stress res
供应链金融是中小企业解决融资困境的良好途径,但流程复杂以及信息不对称大幅增加了金融机构识别和防范信用风险的难度,阻碍了供应链金融的发展.因此,构建科学有效的信用风险评估模型具有重要的理论意义和现实价值.MLP作为神经网络的典型代表,计算迅速,容错性能强,在处理分类问题上具有良好的表现.以2014年—2019年深交所中小企业板制造业中符合要求的中小企业为样本,通过全方位初选评估指标,利用相关性分析对指标进行进一步筛选,得到中小企业供应链金融信用风险评估指标体系,接着基于MLP神经网络构建了中小企业供应链金融
区域生态补偿额度的确定和空间选择是横向转移支付生态补偿机制研究的关键问题.本研究以福州市12区县为基本研究单元,通过核算2015和2018年福州市各区县森林、草地、湿地、农田和海洋五大生态系统的生态功能价值,结合当地经济发展状况,构建生态补偿模型,确定了福州市各区县不同生态系统的生态补偿额度及空间分布.结果 表明:2015-2018年间,生态支付额度最大的地区为鼓楼区(363.84亿元),其次为马尾区、仓山区和晋安区,分别为78.09、69.74和66.69亿元,罗源县和台江区的支付额度较小,分别为29.
生态系统破坏损失核算是构建绿色国民经济和经济生态生产总值核算体系的关键内容.本研究以福州市生态系统为研究对象,根据其人类不合理利用生态情况,构建了符合福州市的生态系统破坏损失核算框架体系,对2015和2018年福州市生态系统破坏损失进行核算.结果 表明:福州市2015年生态破坏损失成本为90.81亿元,占GDP比重的1.6％.在系统类型上,海洋的生态破坏损失最大,为63.11亿元,占总生态破坏损失的69.5％,其次为湿地生态系统,占比28.7％,农田生态破坏损失最小,占比仅为1.8％;在功能组成上,产品供