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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. 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

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  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

    Content type: Research

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  8. 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

    Content type: Research

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  9. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Research

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  12. 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

    Content type: Review

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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