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  1. Klebsiella pneumoniae is a major bacterial and opportunistic human pathogen, increasingly recognized as a healthcare burden globally. The convergence of resistance and virulence in K. pneumoniae strains has led t...

    Authors: Sharif Hala, Mohammed Malaikah, Jiayi Huang, Wesam Bahitham, Omniya Fallatah, Samer Zakri, Chakkiath Paul Antony, Mohammed Alshehri, Raeece Naeem Ghazzali, Fathia Ben-Rached, Abdullah Alsahafi, Asim Alsaedi, Ghadeer AlAhmadi, Mai Kaaki, Meshari Alazmi, Baraa AlhajHussein…
    Citation: Genome Medicine 2024 16:58
    Content type: Research Published on:

  2. Carbapenem-resistant Escherichia coli (CREC) has been considered as WHO priority pathogens, causing a great public health concern globally. While CREC from patients has been thoroughly investigated, the prevalenc...

    Authors: Yan Li, Yanyan Zhang, Xinran Sun, Yuchen Wu, Zelin Yan, Xiaoyang Ju, Yonglu Huang, Hongwei Zhou, Zhiqiang Wang, Shaolin Wang, Rong Zhang and Ruichao Li
    Citation: Genome Medicine 2024 16:57
    Content type: Research Published on:

  3. Despite the abundance of genotype-phenotype association studies, the resulting association outcomes often lack robustness and interpretations. To address these challenges, we introduce PheSeq, a Bayesian deep ...

    Authors: Xinzhi Yao, Sizhuo Ouyang, Yulong Lian, Qianqian Peng, Xionghui Zhou, Feier Huang, Xuehai Hu, Feng Shi and Jingbo Xia
    Citation: Genome Medicine 2024 16:56
    Content type: Method Published on:

  4. Most primary Triple Negative Breast Cancers (TNBCs) show amplification of the Epidermal Growth Factor Receptor (EGFR) gene, leading to increased protein expression. However, unlike other EGFR-driven cancers, t...

    Authors: Simona Pellecchia, Melania Franchini, Gaetano Viscido, Riccardo Arnese and Gennaro Gambardella
    Citation: Genome Medicine 2024 16:55
    Content type: Research Published on:

  5. Lung cancer is the leading cause of cancer-related death in the world. In contrast to many other cancers, a direct connection to modifiable lifestyle risk in the form of tobacco smoke has long been establishe...

    Authors: Maria Stella de Biase, Florian Massip, Tzu-Ting Wei, Federico M. Giorgi, Rory Stark, Amanda Stone, Amy Gladwell, Martin O’Reilly, Daniel Schütte, Ines de Santiago, Kerstin B. Meyer, Florian Markowetz, Bruce A. J. Ponder, Robert C. Rintoul and Roland F. Schwarz
    Citation: Genome Medicine 2024 16:54
    Content type: Research Published on:

  6. Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familia...

    Authors: Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii…
    Citation: Genome Medicine 2024 16:46
    Content type: Research Published on:

  7. NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown...

    Authors: Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H. T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski…
    Citation: Genome Medicine 2024 16:53
    Content type: Research Published on:

  8. Prostate cancer is a significant health concern, particularly among African American (AA) men who exhibit higher incidence and mortality compared to European American (EA) men. Understanding the molecular mech...

    Authors: Swathi Ramakrishnan, Eduardo Cortes-Gomez, Sarah R. Athans, Kristopher M. Attwood, Spencer R. Rosario, Se Jin Kim, Donald E. Mager, Emily G. Isenhart, Qiang Hu, Jianmin Wang and Anna Woloszynska
    Citation: Genome Medicine 2024 16:52
    Content type: Research Published on:

  9. A major contributing factor to glioblastoma (GBM) development and progression is its ability to evade the immune system by creating an immune-suppressive environment, where GBM-associated myeloid cells, includ...

    Authors: Yahaya A. Yabo, Pilar M. Moreno-Sanchez, Yolanda Pires-Afonso, Tony Kaoma, Bakhtiyor Nosirov, Andrea Scafidi, Luca Ermini, Anuja Lipsa, Anaïs Oudin, Dimitrios Kyriakis, Kamil Grzyb, Suresh K. Poovathingal, Aurélie Poli, Arnaud Muller, Reka Toth, Barbara Klink…
    Citation: Genome Medicine 2024 16:51
    Content type: Research Published on:

  10. Mitochondria play essential roles in tumorigenesis; however, little is known about the contribution of mitochondrial DNA (mtDNA) to esophageal squamous cell carcinoma (ESCC). Whole-genome sequencing (WGS) is b...

    Authors: Xuehan Zhuang, Rui Ye, Yong Zhou, Matthew Yibo Cheng, Heyang Cui, Longlong Wang, Shuangping Zhang, Shubin Wang, Yongping Cui and Weimin Zhang
    Citation: Genome Medicine 2024 16:50
    Content type: Research Published on:

  11. The efficacy of neoadjuvant chemo-immunotherapy (NAT) in esophageal squamous cell carcinoma (ESCC) is challenged by the intricate interplay within the tumor microenvironment (TME). Unveiling the immune landsca...

    Authors: Gang Ji, Qi Yang, Song Wang, Xiaolong Yan, Qiuxiang Ou, Li Gong, Jinbo Zhao, Yongan Zhou, Feng Tian, Jie Lei, Xiaorong Mu, Jian Wang, Tao Wang, Xiaoping Wang, Jianyong Sun, Jipeng Zhang…
    Citation: Genome Medicine 2024 16:49
    Content type: Research Published on:

  12. Natural killer/T cell lymphoma (NKTCL) is a clinically and genetically heterogeneous disease with poor prognosis. Genome sequencing and mutation characterization provides a powerful approach for patient strati...

    Authors: Zegeng Chen, He Huang, Huangming Hong, Huageng Huang, Huawei Weng, Le Yu, Jian Xiao, Zhao Wang, Xiaojie Fang, Yuyi Yao, Jia-Xing Yue and Tongyu Lin
    Citation: Genome Medicine 2024 16:48
    Content type: Research Published on:

  13. Aberrant DNA methylation is a major characteristic of cancer genomes. It remains unclear which biological processes determine epigenetic reprogramming and how these processes influence the variants in the canc...

    Authors: Qingqing Qin, Ying Zhou, Jintao Guo, Qinwei Chen, Weiwei Tang, Yuchen Li, Jun You and Qiyuan Li
    Citation: Genome Medicine 2024 16:47
    Content type: Research Published on:

  14. Type 1 diabetes mellitus (T1DM) is a prototypic endocrine autoimmune disease resulting from an immune-mediated destruction of pancreatic insulin-secreting http://static-content.springer.com/image/art%3A10.1186%2Fs13073-024-01300-z/13073_2024_1300_Article_IEq1.gif ...

    Authors: Mohammad Amin Honardoost, Andreas Adinatha, Florian Schmidt, Bobby Ranjan, Maryam Ghaeidamini, Nirmala Arul Rayan, Michelle Gek Liang Lim, Ignasius Joanito, Quy Xiao Xuan Lin, Deepa Rajagopalan, Shi Qi Mok, You Yi Hwang, Anis Larbi, Chiea Chuen Khor, Roger Foo, Bernhard Otto Boehm…
    Citation: Genome Medicine 2024 16:45
    Content type: Research Published on:

  15. 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
    Content type: Review Published on:

  16. Limited understanding of the diversity of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene across ancestries hampers efforts to advance molecular diagnosis of cystic fibrosis (CF). ...

    Authors: Justin E. Ideozu, Mengzhen Liu, Bridget M. Riley-Gillis, Sri R. Paladugu, Fedik Rahimov, Preethi Krishnan, Rakesh Tripathi, Patrick Dorr, Hara Levy, Ashvani Singh, Jeffrey F. Waring and Aparna Vasanthakumar
    Citation: Genome Medicine 2024 16:43
    Content type: Research Published on:

  17. Ineffective drug treatment is a major problem for many patients with immune-mediated inflammatory diseases (IMIDs). Important reasons are the lack of systematic solutions for drug prioritisation and repurposin...

    Authors: Samuel Schäfer, Martin Smelik, Oleg Sysoev, Yelin Zhao, Desiré Eklund, Sandra Lilja, Mika Gustafsson, Holger Heyn, Antonio Julia, István A. Kovács, Joseph Loscalzo, Sara Marsal, Huan Zhang, Xinxiu Li, Danuta Gawel, Hui Wang…
    Citation: Genome Medicine 2024 16:42
    Content type: Research Published on:

  18. The occurrence of metabolic syndrome (MetS) and the gut microbiota composition are known to differ across ethnicities yet how these three factors are interwoven is unknown. Also, it is unknown what the relativ...

    Authors: Manon Balvers, Marcus de Goffau, Natal van Riel, Bert-Jan van den Born, Henrike Galenkamp, Koos Zwinderman, Max Nieuwdorp and Evgeni Levin
    Citation: Genome Medicine 2024 16:41
    Content type: Research Published on:

  19. The presence of coronary plaques with high-risk characteristics is strongly associated with adverse cardiac events beyond the identification of coronary stenosis. Testing by coronary computed tomography angiog...

    Authors: Peter Loof Møller, Palle Duun Rohde, Jonathan Nørtoft Dahl, Laust Dupont Rasmussen, Louise Nissen, Samuel Emil Schmidt, Victoria McGilligan, Daniel F. Gudbjartsson, Kari Stefansson, Hilma Holm, Jacob Fog Bentzon, Morten Bøttcher, Simon Winther and Mette Nyegaard
    Citation: Genome Medicine 2024 16:40
    Content type: Research Published on:

  20. In the accompanying study, Nimmo and colleagues estimated the dates of emergence of mutations in mmpR5 (Rv0678), the most important resistance gene to the anti-tuberculosis drug bedaquiline, in over 3500 geograph...

    Authors: Paolo Miotto, Daniela M. Cirillo, Thomas Schön and Claudio U. Köser
    Citation: Genome Medicine 2024 16:39
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2024 16:34

  21. Type 2 diabetes (T2D) has reached epidemic proportions globally, including in Africa. However, molecular studies to understand the pathophysiology of T2D remain scarce outside Europe and North America. The aim...

    Authors: Ayo P. Doumatey, Daniel Shriner, Jie Zhou, Lin Lei, Guanjie Chen, Omolara Oluwasola-Taiwo, Susan Nkem, Adela Ogundeji, Sally N. Adebamowo, Amy R. Bentley, Mateus H. Gouveia, Karlijn A. C. Meeks, Clement A. Adebamowo, Adebowale A. Adeyemo and Charles N. Rotimi
    Citation: Genome Medicine 2024 16:38
    Content type: Research Published on:

  22. Multidrug-resistant (MDR) bacteria are a growing global threat, especially in healthcare facilities. Faecal microbiota transplantation (FMT) is an effective prevention strategy for recurrences of Clostridioides d...

    Authors: Sam Nooij, Karuna E. W. Vendrik, Romy D. Zwittink, Quinten R. Ducarmon, Josbert J. Keller, Ed J. Kuijper and Elisabeth M. Terveer
    Citation: Genome Medicine 2024 16:37
    Content type: Research Published on:

  24. Extension of prostate cancer beyond the primary site by local invasion or nodal metastasis is associated with poor prognosis. Despite significant research on tumour evolution in prostate cancer metastasis, the...

    Authors: Srinivasa Rao, Clare Verrill, Lucia Cerundolo, Nasullah Khalid Alham, Zeynep Kaya, Miriam O’Hanlon, Alicia Hayes, Adam Lambert, Martha James, Iain D. C. Tullis, Jane Niederer, Shelagh Lovell, Altan Omer, Francisco Lopez, Tom Leslie, Francesca Buffa…
    Citation: Genome Medicine 2024 16:35
    Content type: Research Published on:

  25. Drug resistance in tuberculosis (TB) poses a major ongoing challenge to public health. The recent inclusion of bedaquiline into TB drug regimens has improved treatment outcomes, but this advance is threatened ...

    Authors: Camus Nimmo, Arturo Torres Ortiz, Cedric C. S. Tan, Juanita Pang, Mislav Acman, James Millard, Nesri Padayatchi, Alison D. Grant, Max O’Donnell, Alex Pym, Ola B. Brynildsrud, Vegard Eldholm, Louis Grandjean, Xavier Didelot, François Balloux and Lucy van Dorp
    Citation: Genome Medicine 2024 16:34
    Content type: Research Published on:

    The Research Highlight to this article has been published in Genome Medicine 2024 16:39

  26. 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
    Content type: Review Published on:

  27. To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow w...

    Authors: Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann…
    Citation: Genome Medicine 2024 16:32
    Content type: Research Published on:

  28. Population screening for risk of type 1 diabetes (T1D) has been proposed to identify those with islet autoimmunity (presence of islet autoantibodies). As islet autoantibodies can be transient, screening with a...

    Authors: Kristin A. Guertin, David R. Repaske, Julia F. Taylor, Eli S. Williams, Suna Onengut-Gumuscu, Wei-Min Chen, Sarah R. Boggs, Liping Yu, Luke Allen, Lacey Botteon, Louis Daniel, Katherine G. Keating, Mika K. Labergerie, Tyler S. Lienhart, Jorge A. Gonzalez-Mejia, Matt J. Starnowski…
    Citation: Genome Medicine 2024 16:31
    Content type: Research Published on:

  29. Biological processes are controlled by groups of genes acting in concert. Investigating gene–gene interactions within different cell types can help researchers understand the regulatory mechanisms behind human...

    Authors: Zekun Li, Gerui Liu, Xiaoxiao Yang, Meng Shu, Wen Jin, Yang Tong, Xiaochuan Liu, Yuting Wang, Jiapei Yuan and Yang Yang
    Citation: Genome Medicine 2024 16:30
    Content type: Database Published on:

  30. Chronic kidney disease (CKD) is highly prevalent among Indigenous Australians, especially those in remote regions. The Tiwi population has been isolated from mainland Australia for millennia and exhibits uniqu...

    Authors: Vignesh Arunachalam, Rodney Lea, Wendy Hoy, Simon Lee, Susan Mott, Judith Savige, John D. Mathews, Brendan J. McMorran and Shivashankar H. Nagaraj
    Citation: Genome Medicine 2024 16:29
    Content type: Research Published on:

  31. Children with relapsed central nervous system (CNS tumors), neuroblastoma, sarcomas, and other rare solid tumors face poor outcomes. This prospective clinical trial examined the feasibility of combining genomi...

    Authors: Giselle L. Saulnier Sholler, Genevieve Bergendahl, Elizabeth C. Lewis, Jacqueline Kraveka, William Ferguson, Abhinav B. Nagulapally, Karl Dykema, Valerie I. Brown, Michael S. Isakoff, Joseph Junewick, Deanna Mitchell, Jawhar Rawwas, William Roberts, Don Eslin, Javier Oesterheld, Randal K. Wada…
    Citation: Genome Medicine 2024 16:28
    Content type: Research Published on:

  32. Interactions between the gut microbiota, diet, and host metabolism contribute to the development of cardiovascular disease, but a firm link between disease-specific gut microbiota alterations and circulating m...

    Authors: Sajan C. Raju, Antonio Molinaro, Ayodeji Awoyemi, Silje F. Jørgensen, Peder R. Braadland, Andraz Nendl, Ingebjørg Seljeflot, Per M. Ueland, Adrian McCann, PÃ¥l Aukrust, Beate Vestad, Cristiane Mayerhofer, Kaspar Broch, Lars Gullestad, Knut T. LappegÃ¥rd, Bente Halvorsen…
    Citation: Genome Medicine 2024 16:27
    Content type: Research Published on:

  33. Evolutionary models of breast cancer progression differ on the extent to which metastatic potential is pre-encoded within primary tumors. Although metastatic recurrences often harbor putative driver mutations ...

    Authors: Matthew R. Lawrence-Paul, Tien-chi Pan, Dhruv K. Pant, Natalie N. C. Shih, Yan Chen, George K. Belka, Michael Feldman, Angela DeMichele and Lewis A. Chodosh
    Citation: Genome Medicine 2024 16:26
    Content type: Research Published on:

  34. African ancestry populations have the highest burden of stroke worldwide, yet the genetic basis of stroke in these populations is obscure. The Stroke Investigative Research and Educational Network (SIREN) is a...

    Authors: Rufus O. Akinyemi, Hemant K. Tiwari, Vinodh Srinivasasainagendra, Onoja Akpa, Fred S. Sarfo, Albert Akpalu, Kolawole Wahab, Reginald Obiako, Morenikeji Komolafe, Lukman Owolabi, Godwin O. Osaigbovo, Olga A. Mamaeva, Brian A. Halloran, Joshua Akinyemi, Daniel Lackland, Olugbo Y. Obiabo…
    Citation: Genome Medicine 2024 16:25
    Content type: Research Published on:

  35. The Lentivirus human immunodeficiency virus (HIV) causes chronic inflammation and AIDS in humans, with variable rates of disease progression between individuals driven by both host and viral factors. Similarly, s...

    Authors: Aaron J. Wilk, Joshua O. Marceau, Samuel W. Kazer, Ira Fleming, Vincent N. Miao, Jennyfer Galvez-Reyes, Jason T. Kimata, Alex K. Shalek, Susan Holmes, Julie Overbaugh and Catherine A. Blish
    Citation: Genome Medicine 2024 16:24
    Content type: Research Published on:

  36. Few methicillin-resistant Staphylococcus aureus (MRSA) from the early years of its global emergence have been sequenced. Knowledge about evolutionary factors promoting the success of specific MRSA multi-locus seq...

    Authors: Vanni Benvenga, Aline Cuénod, Srinithi Purushothaman, Gottfried Dasen, Maja Weisser, Stefano Bassetti, Tim Roloff, Martin Siegemund, Ulrich Heininger, Julia Bielicki, Marianne Wehrli, Paul Friderich, Reno Frei, Andreas Widmer, Kathrin Herzog, Hans Fankhauser…
    Citation: Genome Medicine 2024 16:23
    Content type: Research Published on:

  37. Although polygenic risk score (PRS) has emerged as a promising tool for predicting cancer risk from genome-wide association studies (GWAS), the individual-level accuracy of lung cancer PRS and the extent to wh...

    Authors: Xinan Wang, Ziwei Zhang, Yi Ding, Tony Chen, Lorelei Mucci, Demetrios Albanes, Maria Teresa Landi, Neil E. Caporaso, Stephen Lam, Adonina Tardon, Chu Chen, Stig E. Bojesen, Mattias Johansson, Angela Risch, Heike Bickeböller, H-Erich Wichmann…
    Citation: Genome Medicine 2024 16:22
    Content type: Research Published on:

  38. The immune system has a central role in preventing carcinogenesis. Alteration of systemic immune cell levels may increase cancer risk. However, the extent to which common genetic variation influences blood tra...

    Authors: Miguel Angel Pardo-Cea, Xavier Farré, Anna Esteve, Joanna Palade, Roderic Espín, Francesca Mateo, Eric Alsop, Marc Alorda, Natalia Blay, Alexandra Baiges, Arzoo Shabbir, Francesc Comellas, Antonio Gómez, Montserrat Arnan, Alex Teulé, Monica Salinas…
    Citation: Genome Medicine 2024 16:21
    Content type: Research Published on:

  39. 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
    Content type: Research Published on:

  40. Age and obesity are dominant risk factors for several common cardiometabolic disorders, and both are known to impair adipose tissue function. However, the underlying cellular and genetic factors linking aging ...

    Authors: Asha Kar, Marcus Alvarez, Kristina M. Garske, Huiling Huang, Seung Hyuk T. Lee, Milena Deal, Sankha Subhra Das, Amogha Koka, Zoeb Jamal, Karen L. Mohlke, Markku Laakso, Sini Heinonen, Kirsi H. Pietiläinen and Päivi Pajukanta
    Citation: Genome Medicine 2024 16:19
    Content type: Research Published on:

  41. Despite therapeutic advances, once a cancer has metastasized to the bone, it represents a highly morbid and lethal disease. One third of patients with advanced clear cell renal cell carcinoma (ccRCC) present w...

    Authors: Shenglin Mei, Adele M. Alchahin, Ioanna Tsea, Youmna Kfoury, Taghreed Hirz, Nathan Elias Jeffries, Ting Zhao, Yanxin Xu, Hanyu Zhang, Hirak Sarkar, Shulin Wu, Alexander O. Subtelny, John Inge Johnsen, Yida Zhang, Keyan Salari, Chin-Lee Wu…
    Citation: Genome Medicine 2024 16:1
    Content type: Research Published on:

  43. Despite advancements in the successful use of immunotherapy in treating a variety of solid tumors, applications in treating brain tumors have lagged considerably. This is due, at least in part, to the lack of ...

    Authors: Vrunda Trivedi, Changlin Yang, Kelena Klippel, Oleg Yegorov, Christina von Roemeling, Lan Hoang-Minh, Graeme Fenton, Elizabeth Ogando-Rivas, Paul Castillo, Ginger Moore, Kaytora Long-James, Kyle Dyson, Bently Doonan, Catherine Flores and Duane A. Mitchell
    Citation: Genome Medicine 2024 16:17
    Content type: Research Published on:

  44. The impact of the gut microbiome on the initiation and intensity of immune-related adverse events (irAEs) prompted by immune checkpoint inhibitors (ICIs) is widely acknowledged. Nevertheless, there is inconsis...

    Authors: Muni Hu, Xiaolin Lin, Tiantian Sun, Xiaoyan Shao, Xiaowen Huang, Weiwei Du, Mengzhe Guo, Xiaoqiang Zhu, Yilu Zhou, Tianying Tong, Fangfang Guo, Ting Han, Xiuqi Wu, Yi Shi, Xiuying Xiao, Youwei Zhang…
    Citation: Genome Medicine 2024 16:16
    Content type: Research Published on:

  45. Immunotherapy based on checkpoint inhibitors is highly effective in mismatch repair deficient (MMRd) colorectal cancer (CRC). These tumors carry a high number of mutations, which are predicted to translate int...

    Authors: Giuseppe Rospo, Rosaria Chilà, Vittoria Matafora, Veronica Basso, Simona Lamba, Alice Bartolini, Angela Bachi, Federica Di Nicolantonio, Anna Mondino, Giovanni Germano and Alberto Bardelli
    Citation: Genome Medicine 2024 16:15
    Content type: Research Published on:

  47. Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characte...

    Authors: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden…
    Citation: Genome Medicine 2024 16:13
    Content type: Research Published on:

  48. Detecting human cancers through cell-free DNA (cfDNA) in blood is a sensitive and non-invasive option. However, capturing multiple forms of epigenetic information remains a technical and financial challenge.

    Authors: Yumei Li, Jianfeng Xu, Chaorong Chen, Zhenhai Lu, Desen Wan, Diange Li, Jason S. Li, Allison J. Sorg, Curt C. Roberts, Shivani Mahajan, Maxime A. Gallant, Itai Pinkoviezky, Ya Cui, David J. Taggart and Wei Li
    Citation: Genome Medicine 2024 16:9
    Content type: Research Published on:

  49. 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
    Content type: Method Published on:

  50. Neoadjuvant chemotherapy (NAC) has become a standard treatment strategy for breast cancer (BC). However, owing to the high heterogeneity of these tumors, it is unclear which patient population most likely bene...

    Authors: Gengshen Yin, Liyuan Liu, Ting Yu, Lixiang Yu, Man Feng, Chengjun Zhou, Xiaoying Wang, Guoxin Teng, Zhongbing Ma, Wenzhong Zhou, Chunmiao Ye, Jialin Zhang, Changhua Ji, Linfeng Zhao, Peng Zhou, Yaxun Guo…
    Citation: Genome Medicine 2024 16:11
    Content type: Research Published on:
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Genome Medicine

ISSN: 1756-994X

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