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复旦大学上海医学院 [66]
内容类型
期刊论文 [61]
会议论文 [3]
图书章节 [2]
发表日期
2019 [19]
2018 [16]
2017 [15]
2016 [7]
2015 [4]
2014 [2]
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专题:复旦大学上海医学院
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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing
期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:
Dou, Tonghai
;
Luo, Sushan
;
Xu, Minjie
;
Sun, Jian
;
Qiao, Kai
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浏览/下载:23/0
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提交时间:2019/12/05
Primary periodic paralysis
Targeted next-generation sequencing
Gene panel
Gene mutation distribution
Calcium homeostasis
Similarities and differences between variants called with human reference genome HG19 or HG38
期刊论文
BMC BIOINFORMATICS, 2019, 卷号: 20
作者:
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浏览/下载:31/0
  |  
提交时间:2019/12/05
Next generation sequencing
Human reference genomes
SNV
Calling pipeline comparison
NG-meta-profiler: fast processing of metagenomes using NGLess, a domain-specific language
期刊论文
MICROBIOME, 2019, 卷号: 7
作者:
Coelho, Luis Pedro
;
Alves, Renato
;
Monteiro, Paulo
;
Huerta-Cepas, Jaime
;
Freitas, Ana Teresa
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浏览/下载:11/0
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提交时间:2019/12/05
Metagenomics
Next-generation sequencing
Domain-specific language
Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes
期刊论文
INTERNATIONAL JOURNAL OF CANCER, 2019, 卷号: 145, 期号: 5
作者:
Tian, Wenjuan
;
Bi, Rui
;
Ren, Yulan
;
He, Hongsheng
;
Shi, Shanfu
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浏览/下载:33/0
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提交时间:2019/12/05
endometrial cancer
hereditary cancer
mismatch repair gene
Lynch syndrome
next-generation sequencing
Application of next-generation sequencing technology to precision medicine in cancer: joint consensus of the Tumor Biomarker Committee of the Chinese Society of Clinical Oncology
期刊论文
CANCER BIOLOGY & MEDICINE, 2019, 卷号: 16, 期号: 1
作者:
Wu, Chunyan
;
Shao, Zhimin
;
Xu, Binghe
;
Zhang, Qingyuan
;
Xu, Ruihua
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浏览/下载:123/0
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提交时间:2019/12/05
Next-generation sequencing technology
cancer
consensus
Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2019, 卷号: 62, 期号: 7
作者:
Jin, Yaqiong
;
Chen, Geng
;
Xiao, Wenming
;
Hong, Huixiao
;
Xu, Joshua
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浏览/下载:34/0
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提交时间:2019/12/05
next generation sequencing
precision medicine
xenobiotic metabolizing enzymes and transporters
toxicogenomics
pharmacogenomics
Differential diagnosis of pulmonary enteric adenocarcinoma and metastatic colorectal carcinoma with the assistance of next-generation sequencing and immunohistochemistry
期刊论文
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, 2019, 卷号: 145, 期号: 1
作者:
Zhang, Jie
;
Xiang, Chan
;
Han, Yuchen
;
Teng, Haohua
;
Li, Xiaojing
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浏览/下载:30/0
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提交时间:2019/12/05
Primary pulmonary enteric adenocarcinoma (PEAC)
Pulmonary metastases from colorectal carcinoma (MCC)
Next-generation sequencing (NGS)
Mutation profile
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:
Hu, Fang-Yuan
;
Li, Jian-kang
;
Gao, Feng-Juan
;
Qi, Yu-He
;
Xu, Ping
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浏览/下载:50/0
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提交时间:2019/12/05
STGD1
next-generation sequencing
ABCA4 gene
mutation spectrum
variant frequency
Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer
期刊论文
THERANOSTICS, 2019, 卷号: 9, 期号: 19
作者:
Tong, Lin
;
Ding, Ning
;
Tong, Xiaoling
;
Li, Jiamin
;
Zhang, Yong
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浏览/下载:43/0
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提交时间:2019/12/05
lung cancer
pleural effusion
cell free DNA
genomic profiling
next-generation sequencing
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease
期刊论文
CANCER, 2019, 卷号: 125, 期号: 7
作者:
Wu, Junlong
;
Wang, Hongkai
;
Ricketts, Christopher J.
;
Yang, Youfeng
;
Merino, Maria J.
收藏
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浏览/下载:19/0
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提交时间:2019/12/05
BRCA1-associated protein 1 (BAP1)
cancer predisposition
early onset
fumarate hydratase (FH)
next-generation sequencing
renal tumor
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