任路瑶 - 复旦大学 - 人类表型组研究院

个人简介

工作经历 2012.9 - 2016.6，复旦大学，生物科学专业，学士 2016.9 - 2021.6，复旦大学，遗传学专业，博士获奖情况复旦大学优秀毕业生（2021）

研究领域

从组学标准物质研制、标准数据集构建、数据分析方法评估等方面进行深入研究，以确保组学数据质量和分析方法准确可靠，为肿瘤精准诊疗奠定基础

近期论文

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Xiao W*#, Ren L*, Chen Z, Fang LT, Zhao Y, Lack J, Jaeger E, Kerrigan L, Blomquist T, Hung T, …, Wang C#, Shi L#. Towards best practice in cancer mutation detection with whole-genome and whole-exome sequencing. Nature Biotechnology, 39(9):1141-1150 (2021) Fang LT*, Zhu B*, Zhao Y*, Chen W, Yang Z, Kerrigan L, Langenbach K, Mars M, Lu C, Idler K, Jacob H, Zheng Y, Ren L, …, Hong H#, Shi L#, Wang C#, Xiao W#. Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing. Nature Biotechnology, 39(9):1151-1160 (2021) Zheng Y*, Li B*, Pan D*, Cao J, Zhang J, Wang X, Li X, Hou W, Bao D, Ren L, Yang J, Wang S, Qiu Y, Zhou F, Liu Z, Zhu S, Zhang L, Qing T, Wang Y, Yu Y, Wu J#, Hu X#, Shi L#. Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer Patient. Breast Cancer Research, 23(1):53 (2021) Jiang YZ*, Ma D*, Suo C*, Shi J*, Xue M, Hu X, Xiao Y, Yu KD, Liu YR, Yu Y, Zheng Y, Li X, Zhang C, Hu P, Zhang J, Hua Q, Zhang J, Hou W, Ren L, Bao D, …, Wang P#, Shi L#, Huang W#, Shao ZM#. Genomic and transcriptomic landscape of triple-negative breast cancers: subtypes and treatment strategies. Cancer Cell, 35(3):428-440 (2019) Yu Y*, Wang Y*, Xia Z, Zhang X, Jin K, Yang J, Ren L, Zhou Z, Yu D, Qing T, Zhang C, Jin L, Zheng Y#, Guo L#, Shi L#. PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. Nucleic Acids Research, 47(D1):D1090-D1101 (2019)