Journal of Translational Medicine (2024)

Table of Contents
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing Measurable residual disease monitoring by ddPCR in the early posttransplant period complements the traditional MFC method to predict relapse after HSCT in AML/MDS: a multicenter retrospective study A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application High somatic mutations in circulating tumor DNA predict response of metastatic pancreatic ductal adenocarcinoma to first-line nab-paclitaxel plus S-1: prospective study A benchmarking framework for the accurate and cost-effective detection of clinically-relevant structural variants for cancer target identification and diagnosis A comparative study on ctDNA and tumor DNA mutations in lung cancer and benign cases with a high number of CTCs and CTECs Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study Simultaneous diagnosis of tuberculous pleurisy and malignant pleural effusion using metagenomic next-generation sequencing (mNGS) Novel method for highly multiplexed gene expression profiling of circulating tumor cells (CTCs) captured from the blood of women with metastatic breast cancer NIPSNAP1 directs dual mechanisms to restrain senescence in cancer cells Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Genomic alterations of cerebrospinal fluid cell-free DNA in leptomeningeal metastases of gastric cancer Identification of novel cell-free RNAs in maternal plasma as preterm biomarkers in combination with placental RNA profiles Noninvasive prediction of axillary lymph node status in breast cancer using promoter profiling of circulating cell-free DNA Clinical application of noninvasive chromosomal screening for elective single-blastocyst transfer in frozen-thawed cycles Comparison of clinical outcomes of frozen-thawed D5 and D6 blastocysts undergoing preimplantation genetic testing Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile Non-invasive preimplantation genetic testing for conventional IVF blastocysts Molecular evolutionary process of advanced gastric cancer during sequential chemotherapy detected by circulating tumor DNA A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool? Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 Clinical utility of cerebrospinal fluid-derived circular RNAs in lung adenocarcinoma patients with brain metastases Prediction of occult tumor progression via platelet RNAs in a mouse melanoma model: a potential new platform for early detection of cancer Evaluation of exosomal non-coding RNAs in cancer using high-throughput sequencing Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies Chromosome aneuploidy analysis in embryos derived from in vivo and in vitro matured human oocytes Applying low coverage whole genome sequencing to detect malignant ovarian mass Molecular characteristics and clinical outcomes of complex ALK rearrangements identified by next-generation sequencing in non-small cell lung cancers Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy Extracellular vesicles isolated by size-exclusion chromatography present suitability for RNomics analysis in plasma One-tube SARS-CoV-2 detection platform based on RT-RPA and CRISPR/Cas12a Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer Qualitative and quantitative comparison of cell-free DNA and cell-free fetal DNA isolation by four (semi-)automated extraction methods: impact in two clinical applications: chimerism quantification and noninvasive prenatal diagnosis Different expression pattern of human cytomegalovirus-encoded microRNAs in circulation from virus latency to reactivation Detection of novel coronavirus (SARS-CoV-2) RNA in peripheral blood specimens Necessity for detection of SARS-CoV-2 RNA in multiple types of specimens for the discharge of the patients with COVID-19 Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors Cross validated serum small extracellular vesicle microRNAs for the detection of oropharyngeal squamous cell carcinoma MicroRNA-181a as novel liquid biopsy marker of central nervous system involvement in pediatric acute lymphoblastic leukemia Clinical application and evaluation of metagenomic next-generation sequencing in suspected adult central nervous system infection Optimization of small RNA library preparation protocol from human urinary exosomes Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants CLEAR: coverage-based limiting-cell experiment analysis for RNA-seq Rapid diagnosis and comprehensive bacteria profiling of sepsis based on cell-free DNA
  • High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

    Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the eff...

    Authors: Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu, Li Du, Jian Lu, Jing Wu, Yukun Zeng, Mingqin Mai, Juan Zhu, Lihua Yu, Wei He, Fangfang Guo, Haishan Peng, Cuize Yao…

    Citation: Journal of Translational Medicine 2024 22:644

    Content type: Research Published on: 9 July 2024

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  • Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks

    Cell free DNA (cfDNA)-based assays hold great potential in detecting early cancer signals yet determining the tissue-of-origin (TOO) for cancer signals remains a challenging task. Here, we investigated the con...

    Authors: Trong Hieu Nguyen, Nhu Nhat Tan Doan, Trung Hieu Tran, Le Anh Khoa Huynh, Phuoc Loc Doan, Thi Hue Hanh Nguyen, Van Thien Chi Nguyen, Giang Thi Huong Nguyen, Hoai-Nghia Nguyen, Hoa Giang, Le Son Tran and Minh Duy Phan

    Citation: Journal of Translational Medicine 2024 22:618

    Content type: Research Published on: 3 July 2024

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  • Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort

    Comprehensive next-generation sequencing is widely used for precision oncology and precision prevention approaches. We aimed to determine the yield of actionable gene variants, the capacity to uncover heredita...

    Authors: I. Vanni, L. Pastorino, V. Andreotti, D. Comandini, G. Fornarini, M. Grassi, A. Puccini, E. T. Tanda, A. Pastorino, V. Martelli, L. Mastracci, F. Grillo, F. Cabiddu, A. Guadagno, S. Coco, E. Allavena…

    Citation: Journal of Translational Medicine 2024 22:462

    Content type: Research Published on: 15 May 2024

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  • Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing

    Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant clinical and genetic heterogeneity. Genetic diagnosis of FSHD remains a ...

    Authors: Mingtao Huang, Qinxin Zhang, Jiao Jiao, Jianquan Shi, Yiyun Xu, Cuiping Zhang, Ran Zhou, Wenwen Liu, Yixuan Liang, Hao Chen, Yan Wang, Zhengfeng Xu and Ping Hu

    Citation: Journal of Translational Medicine 2024 22:451

    Content type: Research Published on: 13 May 2024

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  • Measurable residual disease monitoring by ddPCR in the early posttransplant period complements the traditional MFC method to predict relapse after HSCT in AML/MDS: a multicenter retrospective study

    Droplet digital PCR (ddPCR) is widely applied to monitor measurable residual disease (MRD). However, there are limited studies on the feasibility of ddPCR-MRD monitoring after allogeneic hematopoietic stem cel...

    Authors: Weihao Chen, Jingtao Huang, Yeqian Zhao, Luo Huang, Zhiyang Yuan, Miner Gu, Xiaojun Xu, Jimin Shi, Yi Luo, Jian Yu, Xiaoyu Lai, Lizhen Liu, Huarui Fu, Chenhui Bao, Xin Huang, Zhongzheng Zheng…

    Citation: Journal of Translational Medicine 2024 22:410

    Content type: Research Published on: 30 April 2024

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  • A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application

    Sequencing the mitochondrial genome has been increasingly important for the investigation of primary mitochondrial diseases (PMD) and mitochondrial genetics. To overcome the limitations originating from PCR-ba...

    Authors: Dong Liang, Lin Zhu, Yuqing Zhu, Mingtao Huang, Ying Lin, Hang Li, Ping Hu, Jun Zhang, Bin Shen and Zhengfeng Xu

    Citation: Journal of Translational Medicine 2024 22:386

    Content type: Methodology Published on: 25 April 2024

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  • High somatic mutations in circulating tumor DNA predict response of metastatic pancreatic ductal adenocarcinoma to first-line nab-paclitaxel plus S-1: prospective study

    We previously showed that the nab-paclitaxel plus S-1 (NPS) regimen had promising effects against metastatic pancreatic ducal adenocarcinoma (mPDAC), whose efficacy however could not be precisely predicted by ...

    Authors: Lei Huang, Yao Lv, Shasha Guan, Huan Yan, Lu Han, Zhikuan Wang, Quanli Han, Guanghai Dai and Yan Shi

    Citation: Journal of Translational Medicine 2024 22:184

    Content type: Research Published on: 20 February 2024

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  • A benchmarking framework for the accurate and cost-effective detection of clinically-relevant structural variants for cancer target identification and diagnosis

    Accurate clinical structural variant (SV) calling is essential for cancer target identification and diagnosis but has been historically challenging due to the lack of ground truth for clinical specimens. Meanw...

    Authors: Guiwu Zhuang, Xiaotao Zhang, Wenjing Du, Libin Xu, Jiyong Ma, Haitao Luo, Hongzhen Tang, Wei Wang, Peng Wang, Miao Li, Xu Yang, Dongfang Wu and Shencun Fang

    Citation: Journal of Translational Medicine 2024 22:65

    Content type: Research Published on: 16 January 2024

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  • A comparative study on ctDNA and tumor DNA mutations in lung cancer and benign cases with a high number of CTCs and CTECs

    Liquid biopsy provides a non-invasive approach that enables detecting circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) using blood specimens and theoretically benefits early finding primary tum...

    Authors: Jianzhu Xie, Binjie Hu, Yanping Gong, Sijia He, Jun Lin, Qian Huang and Jin Cheng

    Citation: Journal of Translational Medicine 2023 21:873

    Content type: Research Published on: 1 December 2023

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  • Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study

    Preimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but its effectiveness and potential beneficiary populations are unclear.

    Authors: Shujuan Ma, Jingnan Liao, Shuoping Zhang, Xiaoyi Yang, Berthold Hocher, Jing Tan, Yueqiu Tan, Liang Hu, Fei Gong, Pingyuan Xie and Ge Lin

    Citation: Journal of Translational Medicine 2023 21:779

    Content type: Research Published on: 2 November 2023

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  • Simultaneous diagnosis of tuberculous pleurisy and malignant pleural effusion using metagenomic next-generation sequencing (mNGS)

    Metagenomic next-generation sequencing (mNGS) has become a powerful tool for pathogen detection, but the value of human sequencing reads generated from it is underestimated.

    Authors: Fudong Xu, Qingfeng Wang, Nana Zhang, Xuya Xing, Zichen Liu, Kun Li, Yutong Ma, Qiuxiang Ou, Yaqiong Jia, Xuejing Chen, Chen Zhang, Junhua Pan and Nanying Che

    Citation: Journal of Translational Medicine 2023 21:680

    Content type: Research Published on: 30 September 2023

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  • Novel method for highly multiplexed gene expression profiling of circulating tumor cells (CTCs) captured from the blood of women with metastatic breast cancer

    Enumeration of circulating tumor cells (CTCs) has proven clinical significance for monitoring patients with metastatic cancers. Multiplexed gene expression profiling of CTCs is a potential tool for assessing d...

    Authors: Morvarid Farhang Ghahremani, Kelly Kai Yin Seto, Woohyun Cho, Michael Craig Miller, Paul Smith and David Frederick Englert

    Citation: Journal of Translational Medicine 2023 21:414

    Content type: Research Published on: 26 June 2023

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  • NIPSNAP1 directs dual mechanisms to restrain senescence in cancer cells

    Although the executive pathways of senescence are known, the underlying control mechanisms are diverse and not fully understood, particularly how cancer cells avoid triggering senescence despite experiencing e...

    Authors: Enyi Gao, Xiaoya Sun, Rick Francis Thorne, Xu Dong Zhang, Jinming Li, Fengmin Shao, Jianli Ma and Mian Wu

    Citation: Journal of Translational Medicine 2023 21:401

    Content type: Research Published on: 20 June 2023

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  • Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

    Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity ...

    Authors: Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im and Akash Kumar

    Citation: Journal of Translational Medicine 2023 21:378

    Content type: Research Published on: 10 June 2023

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  • Genomic alterations of cerebrospinal fluid cell-free DNA in leptomeningeal metastases of gastric cancer

    Leptomeningeal metastases (LM) were rare in gastric cancer (GC), and GC patients with LM (GCLM) generally suffer from poor prognosis. Nevertheless, the clinical utility of cerebrospinal fluid (CSF) circulating...

    Authors: Xin Chen, Kaixuan Bai, Yu Zhang, Yang Xu, Yinghao Huo, Sha Wang, Yueli Zou, Xuejiao Qi, Rongyun Guo, Qiuxiang Ou, Dengxiang Liu, Shaohua Yin, Shubo Chen and Hui Bu

    Citation: Journal of Translational Medicine 2023 21:296

    Content type: Research Published on: 2 May 2023

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  • Identification of novel cell-free RNAs in maternal plasma as preterm biomarkers in combination with placental RNA profiles

    Preterm birth (PTB) is the main driver of newborn deaths. The identification of pregnancies at risk of PTB remains challenging, as the incomplete understanding of molecular mechanisms associated with PTB. Alth...

    Authors: Heyue Jin, Yimin Zhang, Zhigang Fan, Xianyan Wang, Chen Rui, Shaozhen Xing, Hongmei Dong, Qunan Wang, Fangbiao Tao and Yumin Zhu

    Citation: Journal of Translational Medicine 2023 21:256

    Content type: Research Published on: 12 April 2023

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  • Noninvasive prediction of axillary lymph node status in breast cancer using promoter profiling of circulating cell-free DNA

    Lymph node metastasis (LNM) is one of the most important factors affecting the prognosis of breast cancer. The accurate evaluation of lymph node status is useful to predict the outcomes of patients and guide t...

    Authors: Zhi-Wei Guo, Qing Liu, Xu Yang, Geng-Xi Cai, Bo-Wei Han, Li-Min Huang, Chun-Xi Li, Zhi-Kun Liang, Xiang-Ming Zhai, Li Lin, Kun Li, Min Zhang, Tian-Cai Liu, Rui-lin Pan, Ying-Song Wu and Xue-Xi Yang

    Citation: Journal of Translational Medicine 2022 20:557

    Content type: Research Published on: 3 December 2022

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  • Clinical application of noninvasive chromosomal screening for elective single-blastocyst transfer in frozen-thawed cycles

    The objective of this study was to explore the clinical application of noninvasive chromosomal screening (NICS) for elective single-blastocyst transfer (eSBT) in frozen-thawed cycles.

    Authors: Rui Chen, Ni Tang, Hongzi Du, Yaxin Yao, Yangyun Zou, Jing Wang, Dunmei Zhao, Xueliang Zhou, Yang Luo, Lei Li and Yuling Mao

    Citation: Journal of Translational Medicine 2022 20:553

    Content type: Research Published on: 3 December 2022

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  • Comparison of clinical outcomes of frozen-thawed D5 and D6 blastocysts undergoing preimplantation genetic testing

    This study aimed to analyze the clinical outcomes of blastocyst which undergo the preimplantation genetic testing (PGT) transplantation from frozen-thawed D5 and D6. In addition, the effect of blastocyst grade...

    Authors: Guanling Yu, Shuiying Ma, Hui Liu, Yujin Liu, Haozhen Zhang, Wenjia Zhang and Keliang Wu

    Citation: Journal of Translational Medicine 2022 20:545

    Content type: Research Published on: 26 November 2022

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  • Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile

    Chromosomal aneuploidy is the most common birth defect. However, the developmental mechanism and gene expression profile of fetuses with chromosomal aneuploidy are relatively unknown, and the maternal immune c...

    Authors: Min Zhang, Kun Li, Shoufang Qu, Zhiwei Guo, Yuanli Wang, Xu Yang, Junhua Zhou, Guojun Ouyang, Rongtao Weng, Fenxia Li, Yingsong Wu and Xuexi Yang

    Citation: Journal of Translational Medicine 2022 20:536

    Content type: Research Published on: 18 November 2022

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  • Non-invasive preimplantation genetic testing for conventional IVF blastocysts

    Previous studies suggested that non-invasive preimplantation genetic testing (niPGT) for intracytoplasmic sperm injection (ICSI) blastocysts can be used to identify chromosomal ploidy and chromosomal abnormali...

    Authors: Pingyuan Xie, Shuoping Zhang, Yifang Gu, Bo Jiang, Liang Hu, Yue-qiu Tan, Yaxin Yao, Yi Tang, Anqi Wan, Sufen Cai, Yangyun Zou, Guangxiu Lu, Cheng Wan, Fei Gong, Sijia Lu and Ge Lin

    Citation: Journal of Translational Medicine 2022 20:396

    Content type: Research Published on: 4 September 2022

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  • Molecular evolutionary process of advanced gastric cancer during sequential chemotherapy detected by circulating tumor DNA

    Efficacy of conventional sequential chemotherapy paradigm for advanced gastric cancer (AGC) patients has largely plateaued. Dynamic molecular changes during and after sequential chemotherapy have not been full...

    Authors: Wenqi Xi, Chenfei Zhou, Fei Xu, Debin Sun, Shengzhou Wang, Yawei Chen, Jun Ji, Tao Ma, Junwei Wu, Chengfang Shangguan, Zhenggang Zhu and Jun Zhang

    Citation: Journal of Translational Medicine 2022 20:365

    Content type: Research Published on: 12 August 2022

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  • A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss

    We and others have previously demonstrated that the size-selection enrichment method could remarkably improve fetal fraction (FF) in the early gestational age (GA, 12–13weeks), suggesting that 9 or 10weeks s...

    Authors: Longwei Qiao, Bin Zhang, Xiaojuan Wu, Chunhua Zhang, Ying Xue, Hui Tang, Haoyu Tang, Jingye Shi, Yuting Liang, Bin Yu and Ting Wang

    Citation: Journal of Translational Medicine 2022 20:345

    Content type: Research Published on: 2 August 2022

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  • A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?

    The next generation sequencing (NGS) based non-invasive prenatal test (NIPT) has outplayed the traditional serum biochemical tests (SBT) in screen of fetal aneuploidies with a high sensitivity and specificity....

    Authors: Peng Dai, Yanfeng Yang, Ganye Zhao, Zhiqiang Gu, Huanan Ren, Shuang Hu, Ning Liu, Weimeng Jiao, Jinfang Li and Xiangdong Kong

    Citation: Journal of Translational Medicine 2022 20:269

    Content type: Research Published on: 15 June 2022

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  • Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center

    The etiology of fetal growth restriction (FGR) is complex and currently, there is a paucity of research about the genetic etiology of fetal growth restriction. We investigated the genetic associations and preg...

    Authors: Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Shiyi Xu, Xianguo Fu, Liangpu Xu and Hailong Huang

    Citation: Journal of Translational Medicine 2022 20:168

    Content type: Research Published on: 9 April 2022

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  • CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587

    Glioblastoma (GBM) is the most common and aggressive malignant primary brain tumor. E3 ligases play important functions in glioma pathogenesis. CRISPR system offers a powerful platform for genome manipulation,...

    Authors: Kun Lin, Shang-Hang Shen, Feng Lu, Pengfeng Zheng, Shizhong Wu, Jingwei Liao, Xiaohang Jiang, Guangming Zeng and De Wei

    Citation: Journal of Translational Medicine 2022 20:96

    Content type: Research Published on: 19 February 2022

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  • Clinical utility of cerebrospinal fluid-derived circular RNAs in lung adenocarcinoma patients with brain metastases

    Free circular RNAs(circRNAs) escaping from primary lesion of cancer to brain are strictly regulated by blood–brain barrier and therefore cerebrospinal fluid (CSF) circRNAs have potential advantage in exploring...

    Authors: Zhen Wang, Ruoying Yu, Xiaoxi Chen, Hua Bao, Ran Cao, An-Na Li, Qiuxiang Ou, Hai-Yan Tu, Qing Zhou, Xue Wu, Zhi-Bo Lin and Yi-Long Wu

    Citation: Journal of Translational Medicine 2022 20:74

    Content type: Research Published on: 5 February 2022

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  • Prediction of occult tumor progression via platelet RNAs in a mouse melanoma model: a potential new platform for early detection of cancer

    Cancer screening provides the opportunity to detect cancer early, ideally before symptom onset and metastasis, and offers an increased opportunity for a better prognosis. The ideal biomarkers for cancer screen...

    Authors: Yue Yin, Ruilan Jiang, Mingwang Shen, Zhaofang Li, Ni Yan, Junqiao Feng, Hong Jiang, Jiaxin Lv, Lijuan Shi, Lina Wang, Xi Liu, Kaiyun Zhang and Di Chen

    Citation: Journal of Translational Medicine 2022 20:71

    Content type: Research Published on: 5 February 2022

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  • Evaluation of exosomal non-coding RNAs in cancer using high-throughput sequencing

    Clinical oncologists need more reliable and non-invasive diagnostic and prognostic biomarkers to follow-up cancer patients. However, the existing biomarkers are often invasive and costly, emphasizing the need ...

    Authors: Kamran Hosseini, Maryam Ranjbar, Abbas Pirpour Tazehkand, Parina Asgharian, Soheila Montazersaheb, Vahideh Tarhriz and Tohid Ghasemnejad

    Citation: Journal of Translational Medicine 2022 20:30

    Content type: Review Published on: 15 January 2022

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  • Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

    Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This stu...

    Authors: Xinlin Chen, Yulin Jiang, Ruiguo Chen, Qingwei Qi, Xiujuan Zhang, Sheng Zhao, Chaoshi Liu, Weiyun Wang, Yuezhen Li, Guoqiang Sun, Jieping Song, Hui Huang, Chen Cheng, Jianguang Zhang, Longxian Cheng and Juntao Liu

    Citation: Journal of Translational Medicine 2022 20:10

    Content type: Research Published on: 3 January 2022

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  • Chromosome aneuploidy analysis in embryos derived from in vivo and in vitro matured human oocytes

    In vitro oocyte maturation (IVM) is being increasingly approached in assisted reproductive technology (ART). This study aimed to evaluate the quality of embryos generated by in-vitro matured immature follicles...

    Authors: Jianhua Li, Jing Chen, Tiecheng Sun, Shuiwen Zhang, Tingting Jiao, Ri-Cheng Chian, Youzhu Li and Ye Xu

    Citation: Journal of Translational Medicine 2021 19:416

    Content type: Research Published on: 9 October 2021

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  • Applying low coverage whole genome sequencing to detect malignant ovarian mass

    To evaluate whether low coverage whole genome sequencing is suitable for the detection of malignant pelvic mass and compare its diagnostic value with traditional tumor markers. We enrolled 63 patients with a p...

    Authors: Ming Chen, Pengqiang Zhong, Mengzhi Hong, Jinfeng Tan, Xuegao Yu, Hao Huang, Juan Ouyang, Xiaoping Lin and Peisong Chen

    Citation: Journal of Translational Medicine 2021 19:369

    Content type: Research Published on: 26 August 2021

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  • Molecular characteristics and clinical outcomes of complex ALK rearrangements identified by next-generation sequencing in non-small cell lung cancers

    Complex kinase rearrangement, a mutational process involving one or two chromosomes with clustered rearrangement breakpoints, interferes with the accurate detection of kinase fusions by DNA-based next-generati...

    Authors: Peiyi Xia, Lan Zhang, Pan Li, Enjie Liu, Wencai Li, Jianying Zhang, Hui Li, Xiaoxing Su and Guozhong Jiang

    Citation: Journal of Translational Medicine 2021 19:308

    Content type: Research Published on: 16 July 2021

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  • Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy

    Inherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas t...

    Authors: Mingmin Li, Shuang Xia, Lan Xu, Hong Tan, Junqing Yang, Zejia Wu, Xuyu He and Liwen Li

    Citation: Journal of Translational Medicine 2021 19:189

    Content type: Research Published on: 3 May 2021

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  • Extracellular vesicles isolated by size-exclusion chromatography present suitability for RNomics analysis in plasma

    Extracellular vesicles (EVs), known as cell-derived membranous structures harboring a variety of biomolecules, have been widely used in liquid biopsy. Due to the complex biological composition of plasma, plasm...

    Authors: Yang Yang, Yaojie Wang, Sisi Wei, Chaoxi Zhou, Jiarui Yu, Guiying Wang, Wenxi Wang and Lianmei Zhao

    Citation: Journal of Translational Medicine 2021 19:104

    Content type: Research Published on: 12 March 2021

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  • One-tube SARS-CoV-2 detection platform based on RT-RPA and CRISPR/Cas12a

    COVID-19 has spread rapidly around the world, affecting a large percentage of the population. When lifting certain mandatory measures for an economic restart, robust surveillance must be established and implem...

    Authors: Yangyang Sun, Lei Yu, Chengxi Liu, Shanting Ye, Wei Chen, Dechang Li and Weiren Huang

    Citation: Journal of Translational Medicine 2021 19:74

    Content type: Research Published on: 16 February 2021

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  • Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer

    Currently, there is no reliable blood-based marker to track tumor recurrence in endometrial cancer (EC) patients. Liquid biopsies, specifically, circulating tumor DNA (ctDNA) analysis emerged as a way to monit...

    Authors: Weiwei Feng, Nan Jia, Haining Jiao, Jun Chen, Yan Chen, Yueru Zhang, Menghan Zhu, Chongying Zhu, Lifei Shen and Wenqing Long

    Citation: Journal of Translational Medicine 2021 19:51

    Content type: Research Published on: 3 February 2021

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  • Qualitative and quantitative comparison of cell-free DNA and cell-free fetal DNA isolation by four (semi-)automated extraction methods: impact in two clinical applications: chimerism quantification and noninvasive prenatal diagnosis

    Non-invasive molecular analysis of cell-free DNA (cfDNA) became a sensitive biomarker for monitoring organ transplantation or for detection of fetal DNA (cffDNA) in noninvasive prenatal test. In this study, we...

    Authors: Pascal Pedini, Hajer Graiet, Laurine Laget, Lugdivine Filosa, Jade Chatron, Nicem Cherouat, Jacques Chiaroni, Lucas Hubert, Coralie Frassati and Christophe Picard

    Citation: Journal of Translational Medicine 2021 19:15

    Content type: Methodology Published on: 6 January 2021

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  • Different expression pattern of human cytomegalovirus-encoded microRNAs in circulation from virus latency to reactivation

    Human cytomegalovirus (HCMV) is a beta-hersvirinae that has a high latent infection rate worldwide and can cause serious consequences in immunocompromised patients when reactivation; however, the mechanism of ...

    Authors: Wanqing Zhou, Cheng Wang, Meng Ding, Yuying Bian, Yujie Zhong, Han Shen, Junjun Wang, Chen-Yu Zhang and Chunni Zhang

    Citation: Journal of Translational Medicine 2020 18:469

    Content type: Research Published on: 9 December 2020

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  • Detection of novel coronavirus (SARS-CoV-2) RNA in peripheral blood specimens

    The latest outbreak of pneumonia caused by SARS-CoV-2 presents a significant challenge to global public health and has a major impact on clinical microbiology laboratories. In some situations, such as patients...

    Authors: Marjan Azghandi and Mohammad Amin Kerachian

    Citation: Journal of Translational Medicine 2020 18:412

    Content type: Commentary Published on: 2 November 2020

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  • Necessity for detection of SARS-CoV-2 RNA in multiple types of specimens for the discharge of the patients with COVID-19

    The SARS-CoV-2 RNA was detected positive again after discharged from hospital in some COVID-19 patients, with or without clinical symptoms such as fever or dry cough.

    Authors: Yongqing Tong, Anyu Bao, Hongbing Chen, Jingtao Huang, Zhihua Lv, Lina Feng, Yun Cheng, Youna Wang, Li Bai, Wenlong Rao, Hongyun Zheng, Zegang Wu, Bin Qiao, Zhijun Zhao, Huiming Wang and Yan Li

    Citation: Journal of Translational Medicine 2020 18:411

    Content type: Research Published on: 2 November 2020

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  • Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors

    Circulating tumor DNA (ctDNA) offers a convenient way to monitor tumor progression and treatment response. Because tumor mutational profiles are highly variable from person to person, a fixed content panel may...

    Authors: Jiaping Li, Wei Jiang, Jinwang Wei, Jianwei Zhang, Linbo Cai, Minjie Luo, Zhan Wang, Wending Sun, Shengzhou Wang, Chen Wang, Chun Dai, Jun Liu, Guan Wang, Jiping Wang, Qiang Xu and Yanhong Deng

    Citation: Journal of Translational Medicine 2020 18:293

    Content type: Research Published on: 1 August 2020

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  • Cross validated serum small extracellular vesicle microRNAs for the detection of oropharyngeal squamous cell carcinoma

    Oropharyngeal squamous cell carcinoma (OPSCC) is often diagnosed at an advanced stage because the disease often causes minimal symptoms other than metastasis to neck lymph nodes. Better tools are required to a...

    Authors: G. C. Mayne, C. M. Woods, N. Dharmawardana, T. Wang, S. Krishnan, J. C. Hodge, A. Foreman, S. Boase, A. S. Carney, E. A. W. Sigston, D. I. Watson, E. H. Ooi and D. J. Hussey

    Citation: Journal of Translational Medicine 2020 18:280

    Content type: Research Published on: 10 July 2020

    The Correction to this article has been published in Journal of Translational Medicine 2022 20:282

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  • MicroRNA-181a as novel liquid biopsy marker of central nervous system involvement in pediatric acute lymphoblastic leukemia

    Refractory central nervous system (CNS) involvement is among the major causes of therapy failure in childhood acute leukemia. Applying contemporary diagnostic methods, CNS disease is often underdiagnosed. To e...

    Authors: Bálint Egyed, Nóra Kutszegi, Judit C. Sági, András Gézsi, Andrea Rzepiel, Tamás Visnovitz, Péter Lőrincz, Judit Müller, Marianna Zombori, Csaba Szalai, Dániel J. Erdélyi, Gábor T. Kovács and Ágnes F. Semsei

    Citation: Journal of Translational Medicine 2020 18:250

    Content type: Research Published on: 22 June 2020

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  • Clinical application and evaluation of metagenomic next-generation sequencing in suspected adult central nervous system infection

    Accurate etiology diagnosis is crucial for central nervous system infections (CNS infections). The diagnostic value of metagenomic next-generation sequencing (mNGS), an emerging powerful platform, remains to b...

    Authors: Yi Zhang, Peng Cui, Hao-Cheng Zhang, Hong-Long Wu, Ming-Zhi Ye, Yi-Min Zhu, Jing-Wen Ai and Wen-Hong Zhang

    Citation: Journal of Translational Medicine 2020 18:199

    Content type: Research Published on: 13 May 2020

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  • Optimization of small RNA library preparation protocol from human urinary exosomes

    Sequencing of miRNAs isolated from exosomes has great potential to identify novel disease biomarkers, but exosomes have low amount of RNA, hindering adequate analysis and quantification. Here, we have assessed...

    Authors: Dolores Olivares, Javier Perez-Hernandez, Daniel Perez-Gil, Felipe J. Chaves, Josep Redon and Raquel Cortes

    Citation: Journal of Translational Medicine 2020 18:132

    Content type: Methodology Published on: 18 March 2020

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  • Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution

    NGS from plasma samples in non-squamous cell lung carcinoma (NSCC) can aid in the detection of actionable genomic alterations. However, the absolute clinical value of NGS in liquid biopsy (LB) made at baseline...

    Authors: Simon Heeke, Véronique Hofman, Marius Ilié, Maryline Allegra, Virginie Lespinet, Olivier Bordone, Jonathan Benzaquen, Jacques Boutros, Michel Poudenx, Salomé Lalvée, Virginie Tanga, Carole Salacroup, Christelle Bonnetaud, Charles-Hugo Marquette and Paul Hofman

    Citation: Journal of Translational Medicine 2020 18:87

    Content type: Research Published on: 17 February 2020

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  • Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

    Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inherited blindness. Despite the large number of genes identified, only ~ 60% of cases receive a genetic diagnos...

    Authors: María González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego and Guillermo Antiñolo

    Citation: Journal of Translational Medicine 2020 18:73

    Content type: Research Published on: 12 February 2020

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  • CLEAR: coverage-based limiting-cell experiment analysis for RNA-seq

    Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cell populations without the need for sample pooling or RNA e...

    Authors: Logan A. Walker, Michael G. Sovic, Chi-Ling Chiang, Eileen Hu, Jiyeon K. Denninger, Xi Chen, Elizabeth D. Kirby, John C. Byrd, Natarajan Muthusamy, Ralf Bundschuh and Pearlly Yan

    Citation: Journal of Translational Medicine 2020 18:63

    Content type: Research Published on: 10 February 2020

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  • Rapid diagnosis and comprehensive bacteria profiling of sepsis based on cell-free DNA

    Sepsis remains a major challenge in intensive care units, causing unacceptably high mortality rates due to the lack of rapid diagnostic tools with sufficient sensitivity. Therefore, there is an urgent need to ...

    Authors: Pei Chen, Shuo Li, Wenyuan Li, Jie Ren, Fengzhu Sun, Rui Liu and Xianghong Jasmine Zhou

    Citation: Journal of Translational Medicine 2020 18:5

    Content type: Research Published on: 6 January 2020

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