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Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study

机译：基于三重组的全基因组测序研究检测中国纳米滴乳患者临床相关遗传变异

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Congcong Guo; Zhenni Zhao; Denghui Chen; Shuxiang He; Nannan Sun; Zhongwen Li; Jiafan Liu; Dandan Zhang; Jiamin Zhang; Jianlong Li; Miao Zhang; Jian Ge; Xing Liu; Xiaoling Zhang; Zhigang Fan;
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1. Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study [J] . Guo Congcong, Zhao Zhenni, Chen Denghui, Investigative ophthalmology & visual science . 2019,第8期

机译：基于三重组的全基因组测序研究检测中国纳米滴乳患者临床相关遗传变异
2. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing [J] . JiangY.-H., YuenR.K.C., JinX., The American Journal of Human Genetics . 2013,第2期

机译：通过全基因组测序检测自闭症谱系障碍中临床相关的遗传变异
3. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders [J] . Pfundt Rolph, del Rosario Marisol, Vissers Lisenka E. L. M., Genetics in medicine . 2017,第6期

机译：在大型遗传障碍队列中exome测序检测临床相关的拷贝数变体
4. A portable and scalable workflow for detecting structural variants in whole-genome sequencing data [C] . Arnold Kuzniar, Jason Maassen, Stefan Verhoeven, IEEE International Conference on e-Science . 2018

机译：用于检测全基因组测序数据中结构变体的便携式和可扩展工作流程
5. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
6. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing [O] . Yong-hui Jiang, Ryan K.C. Yuen, Xin Jin, 2013

机译：全基因组测序检测自闭症谱系障碍的临床相关遗传变异
7. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing [O] . Jiang Yong-hui, Yuen Ryan K.C., Jin Xin, 2013

机译：通过全基因组测序检测自闭症谱图中临床相关的遗传变异

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study

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