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Translational Genomics and Genetics

Section edited by Wei Liu

This section aims to provide a translational medicine forum for the publication of research on novel genomics assays that leads to better clinical diagnosis and treatment. The core mission of translational genomics and genetics is to delineate the complex interactions among genes, gene products, and the environment. The big genomic dataset, such as the one generated by The Cancer Genome Atlas Program, has a profound impact on scientific discovery and innovation in diagnosis, drug development, and disease management. We are at the edge of superior precision and personalized medicine era. This section is an answer to the call of accelerating translation of genomic technology for better clinical care.

Studies on all aspects of genomic applications in clinical medicine will be considered for publication. The section welcomes interdisciplinary works that related to diagnosis or management of rare genetic disease, complex inherited disease, prenatal/perinatal screening, oncology, organ transplantation, and pathogen identification.

  1. We and others have previously demonstrated that the size-selection enrichment method could remarkably improve fetal fraction (FF) in the early gestational age (GA, 12–13 weeks), suggesting that 9 or 10 weeks 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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

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

  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. Breast cancer (BrC) remains the leading cause of cancer-related death in women, mainly due to recurrent and/or metastatic events, entailing the need for biomarkers predictive of progression to advanced disease...

    Authors: Helena Estevão-Pereira, João Lobo, Sofia Salta, Maria Amorim, Paula Lopes, Mariana Cantante, Berta Reis, Luís Antunes, Fernando Castro, Susana Palma de Sousa, Céline S. Gonçalves, Bruno M. Costa, Rui Henrique and Carmen Jerónimo
    Citation: Journal of Translational Medicine 2019 17:435
  29. Patients with atypical values of HCG and/or PAPP-A are at higher risk of chromosomal abnormality and vascular complications of pregnancy. The performance of cfDNA in this particular population has not yet been...

    Authors: Julie Carrara, Alexandre Vivanti, Jacques C. Jani, Adèle Demain, Jean-Marc Costa and Alexandra Benachi
    Citation: Journal of Translational Medicine 2019 17:398
  30. Pemetrexed combined with platinum complexes can be used as first-line treatment for advanced non-squamous non-small cell lung cancer (NSCLC), however, the efficacy and safety is varying from individuals. There...

    Authors: Xiaohong Han, Ying Han, Qiaoyun Tan, Yu Huang, Jianliang Yang, Sheng Yang, Xiaohui He, Shengyu Zhou, Yan Song, Jinping Pi, Lijie Zuo, Jiarui Yao, Di Wu, Zhishang Zhang and Yuankai Shi
    Citation: Journal of Translational Medicine 2019 17:339
  31. Monitoring circulating tumor cells (CTC) has been shown to be prognostic in most solid malignancies. There is no CTC assay in clinical use for lung cancer therapy monitoring due to inconclusive clinical utilit...

    Authors: Stephanie N. Shishido, Anders Carlsson, Jorge Nieva, Kelly Bethel, James B. Hicks, Lyudmila Bazhenova and Peter Kuhn
    Citation: Journal of Translational Medicine 2019 17:294
  32. Meningitis can be caused by several viruses and bacteria. Identifying the causative pathogen as quickly as possible is crucial to initiate the most optimal therapy, as acute bacterial meningitis is associated ...

    Authors: Esther Bartholomeus, Nicolas De Neuter, Annelies Lemay, Luc Pattyn, David Tuerlinckx, David Weynants, Koen Van Lede, Gerlant van Berlaer, Dominique Bulckaert, Tine Boiy, Ann Vander Auwera, Marc Raes, Dimitri Van der Linden, Helene Verhelst, Susanne Van Steijn, Tijl Jonckheer…
    Citation: Journal of Translational Medicine 2019 17:282
  33. Infertility is considered a major public health issue, and approximately 1 out of 6 people worldwide suffer from infertility during their reproductive lifespans. Thanks to technological advances, genetic tests...

    Authors: Federica Cariati, Valeria D’Argenio and Rossella Tomaiuolo
    Citation: Journal of Translational Medicine 2019 17:267
  34. Alloantibodies against human platelet antigens (HPAs) and human leukocyte antigen (HLA) are implicated in several immune-mediated platelet disorders. Detection of these antibodies is crucial in the diagnosis a...

    Authors: Sudan Tao, Shu Chen, Xiaozhen Hong, Ji He and Faming Zhu
    Citation: Journal of Translational Medicine 2019 17:249
  35. The use of one-step nucleic acid amplification (OSNA) allows for lymph node (LN) metastasis to be detected rapidly and accurately. We conducted a prospective single-centre clinical trial to evaluate OSNA assay...

    Authors: María Escalante Pérez, María Teresa Hermida Romero, Begoña Otero Alén, Mónica Álvarez Martínez, Ricardo Fernández Prado, Mercedes de la Torre Bravos and Ángel Concha López
    Citation: Journal of Translational Medicine 2019 17:233