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New technology applications in health and disease

Guest editors: Fei Chen and Francisco De La Vega

New Content ItemApplications of technology, including for dissection of disease architecture, modeling of progression, disease prognosis, and prediction of clinical outcomes, have been widely demonstrated in recent years cementing the significance of these tools for advancing health and medicine. Single-cell transcriptomics, spatial multi-omics, long read sequencing, artificial intelligence and machine learning are among recently developed technologies that have revolutionized our understanding of disease and have the potential to benefit clinical practice. Single-cell sequencing and spatial ‘omics have furthered the dissection of complex biological mechanisms in tissues as well as uncovered novel insights into disease architecture at a cellular level.  Artificial intelligence and machine learning tools have shown potential applications in disease detection, diagnosis, subtype classification, prognosis prediction, determination of therapeutic response in patients, and drug development. Technologies have aided our understanding of disease variation and interpretation making significant strides for patient treatment and management. 

To capture advances in this growing area, Genome Medicine is pleased to announce a call for papers for our upcoming special issue on ‘New technology applications in health and disease’, guest edited by Dr. Fei Chen from the Broad Institute and Dr. Francisco De La Vega from Stanford University. The issue will capture applications of new technologies in understanding disease etiology, progression, diagnostics, and response to therapeutics as well as combine multi-omic and clinical data, leverage health systems data, and cover the spectrum of human disease, with a special emphasis on cancer and rare diseases. 

We are now inviting the submission of Research, Method, Software, Database and Guideline manuscripts of outstanding interest covering new technology applications in health and disease including:

  ● Single-cell ‘omics
  ● Spatial multi-omics  
  ● Application of multi-omics and multi-modal studies
  ● Artificial intelligence, machine learning, and deep learning 
  ● Applications of long read sequencing
  ● Clinical interpretation
  ● Precision genome engineering
  ● Cellular therapies and gene therapies
  ● Sequencing based diagnostics
  ● Health systems data and image analysis  

Submission deadline: 23 January 2023

To submit your manuscript, please use the Genome Medicine online submission system and indicate in your covering letter that you would like the article to be considered for the ‘New technology applications in health and disease’ special issue. If you would like to enquire about the suitability of a manuscript for consideration, please email

This collection of articles has not been sponsored and articles will undergo the journal’s standard peer-review process. The Guest Editors declare that they have no competing interests. The Guest Editors serve an advisory role to guide the scope of the special issue and commissioned content; final editorial decisions lie with the Editor.

  1. Histopathology and genomic profiling are cornerstones of precision oncology and are routinely obtained for patients with cancer. Traditionally, histopathology slides are manually reviewed by highly trained pat...

    Authors: Michaela Unger and Jakob Nikolas Kather
    Citation: Genome Medicine 2024 16:44
  2. Polygenic scores (PGS) can be used for risk stratification by quantifying individuals’ genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review...

    Authors: Ruidong Xiang, Martin Kelemen, Yu Xu, Laura W. Harris, Helen Parkinson, Michael Inouye and Samuel A. Lambert
    Citation: Genome Medicine 2024 16:33
  3. Recent studies using single-cell transcriptomic analysis have reported several distinct clusters of neoplastic epithelial cells and cancer-associated fibroblasts in the pancreatic cancer tumor microenvironment...

    Authors: Seongryong Kim, Galam Leem, Junjeong Choi, Yongjun Koh, Suho Lee, Sang-Hee Nam, Jin Su Kim, Chan Hee Park, Ho Kyoung Hwang, Kyoung Il Min, Jung Hyun Jo, Hee Seung Lee, Moon Jae Chung, Jeong Youp Park, Seung Woo Park, Si Young Song…
    Citation: Genome Medicine 2024 16:20
  4. Optimal integration of transcriptomics data and associated spatial information is essential towards fully exploiting spatial transcriptomics to dissect tissue heterogeneity and map out inter-cellular communica...

    Authors: Hang Xu, Huazhu Fu, Yahui Long, Kok Siong Ang, Raman Sethi, Kelvin Chong, Mengwei Li, Rom Uddamvathanak, Hong Kai Lee, Jingjing Ling, Ao Chen, Ling Shao, Longqi Liu and Jinmiao Chen
    Citation: Genome Medicine 2024 16:12
  5. The advancement of single-cell sequencing has progressed our ability to solve biological questions. Cell type annotation is of vital importance to this process, allowing for the analysis and interpretation of ...

    Authors: Fei Quan, Xin Liang, Mingjiang Cheng, Huan Yang, Kun Liu, Shengyuan He, Shangqin Sun, Menglan Deng, Yanzhen He, Wei Liu, Shuai Wang, Shuxiang Zhao, Lantian Deng, Xiaobo Hou, Xinxin Zhang and Yun Xiao
    Citation: Genome Medicine 2023 15:91
  6. Primary liver cancer has significant intratumor genetic heterogeneity (IGH), which drives cancer evolution and prevents effective cancer treatment. CRISPR/Cas9-induced mouse liver cancer models can be used to ...

    Authors: Tao Guo, Guo-Qiao Chen, Xu-Fan Li, Meng Wang, Kun-Ming Liu, Xiao-Ying Yang, Si-Cheng Liu, Yi-Li Feng, Peng-Yuan Liu, Hui Lin and An-Yong Xie
    Citation: Genome Medicine 2023 15:80
  7. Novel immunotherapy combination therapies have improved outcomes for patients with hepatocellular carcinoma (HCC), but responses are limited to a subset of patients. Little is known about the inter- and intra-...

    Authors: Shuming Zhang, Long Yuan, Ludmila Danilova, Guanglan Mo, Qingfeng Zhu, Atul Deshpande, Alexander T. F. Bell, Jennifer Elisseeff, Aleksander S. Popel, Robert A. Anders, Elizabeth M. Jaffee, Mark Yarchoan, Elana J. Fertig and Luciane T. Kagohara
    Citation: Genome Medicine 2023 15:72
  8. Emerging evidence from mouse models is beginning to elucidate the brain’s immune response to tau pathology, but little is known about the nature of this response in humans. In addition, it remains unclear to w...

    Authors: Daniel W. Sirkis, Caroline Warly Solsberg, Taylor P. Johnson, Luke W. Bonham, Virginia E. Sturm, Suzee E. Lee, Katherine P. Rankin, Howard J. Rosen, Adam L. Boxer, William W. Seeley, Bruce L. Miller, Ethan G. Geier and Jennifer S. Yokoyama
    Citation: Genome Medicine 2023 15:53
  9. Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of indivi...

    Authors: Francesco Kumara Mastrorosa, Danny E. Miller and Evan E. Eichler
    Citation: Genome Medicine 2023 15:42
  10. High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic d...

    Authors: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee and Jennifer G. Mulle
    Citation: Genome Medicine 2023 15:35
  11. The association between microbes and cancer has been reported repeatedly; however, it is not clear if molecular tumour properties are connected to specific microbial colonisation patterns. This is due mainly t...

    Authors: Gaia Sambruni, Angeli D. Macandog, Jakob Wirbel, Danilo Cagnina, Carlotta Catozzi, Tiziano Dallavilla, Francesca Borgo, Nicola Fazio, Uberto Fumagalli-Romario, Wanda L. Petz, Teresa Manzo, Simona P. Ravenda, Georg Zeller, Luigi Nezi and Martin H. Schaefer
    Citation: Genome Medicine 2023 15:32
  12. Medulloblastoma (MB) is a malignant tumour of the cerebellum which can be classified into four major subgroups based on gene expression and genomic features. Single-cell transcriptome studies have defined the ...

    Authors: Tuan Vo, Brad Balderson, Kahli Jones, Guiyan Ni, Joanna Crawford, Amanda Millar, Elissa Tolson, Matthew Singleton, Marija Kojic, Thomas Robertson, Shaun Walters, Onkar Mulay, Dharmesh D. Bhuva, Melissa J. Davis, Brandon J. Wainwright, Quan Nguyen…
    Citation: Genome Medicine 2023 15:29
  13. Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major bottleneck for...

    Authors: Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore and Mark Yandell
    Citation: Genome Medicine 2023 15:18
  14. Intratumoral heterogeneity (ITH) is a hallmark of clear cell renal cell carcinoma (ccRCC) that reflects the trajectory of evolution and influences clinical prognosis. Here, we seek to elucidate how ITH and tum...

    Authors: Mahdi Golkaram, Fengshen Kuo, Sounak Gupta, Maria I. Carlo, Michael L. Salmans, Raakhee Vijayaraghavan, Cerise Tang, Vlad Makarov, Phillip Rappold, Kyle A. Blum, Chen Zhao, Rami Mehio, Shile Zhang, Jim Godsey, Traci Pawlowski, Renzo G. DiNatale…
    Citation: Genome Medicine 2022 14:143
  15. Numerous studies have used multi-region sampling approaches to characterize intra-tumor heterogeneity (ITH) in hepatocellular carcinoma (HCC). However, conventional multi-region sampling strategies do not pres...

    Authors: Chen Yang, Senquan Zhang, Zhuoan Cheng, Zhicheng Liu, Linmeng Zhang, Kai Jiang, Haigang Geng, Ruolan Qian, Jun Wang, Xiaowen Huang, Mo Chen, Zhe Li, Wenxin Qin, Qiang Xia, Xiaonan Kang, Cun Wang…
    Citation: Genome Medicine 2022 14:142