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  1. The high incidence of aneuploidy in early human development, arising either from errors in meiosis or postzygotic mitosis, is the primary cause of pregnancy loss, miscarriage, and stillbirth following natural ...

    Authors: Rajiv C. McCoy, Michael C. Summers, Abeo McCollin, Christian S. Ottolini, Kamal Ahuja and Alan H. Handyside
    Citation: Genome Medicine 2023 15:77
    Content type: Research Published on:

  2. Alternative splicing complexity plays a vital role in carcinogenesis and cancer progression. Improved understanding of novel splicing events and the underlying regulatory mechanisms may contribute new insights...

    Authors: Qiang Sun, Ye Han, Jianxing He, Jie Wang, Xuejie Ma, Qianqian Ning, Qing Zhao, Qian Jin, Lili Yang, Shuang Li, Yang Li, Qiaoming Zhi, Junnian Zheng and Dong Dong
    Citation: Genome Medicine 2023 15:76
    Content type: Research Published on:

  3. Systemic and local profiles have each been associated with asthma, but parsing causal relationships between system-wide and airway-specific processes can be challenging. We sought to investigate systemic and a...

    Authors: Lingdi Zhang, Yoojin Chun, Haritz Irizar, Zoe Arditi, Galina Grishina, Alexander Grishin, Alfin Vicencio and Supinda Bunyavanich
    Citation: Genome Medicine 2023 15:71
    Content type: Research Published on:

  4. The proteome is a major source of therapeutic targets. We conducted a proteome-wide Mendelian randomization (MR) study to identify candidate protein markers and therapeutic targets for colorectal cancer (CRC).

    Authors: Jing Sun, Jianhui Zhao, Fangyuan Jiang, Lijuan Wang, Qian Xiao, Fengyan Han, Jie Chen, Shuai Yuan, Jingsun Wei, Susanna C. Larsson, Honghe Zhang, Malcolm G Dunlop, Susan M Farrington, Kefeng Ding, Evropi Theodoratou and Xue Li
    Citation: Genome Medicine 2023 15:75
    Content type: Research Published on:

  5. Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes an...

    Authors: Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed…
    Citation: Genome Medicine 2023 15:74
    Content type: Research Published on:

  6. Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases h...

    Authors: Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F. Ernst, Dennis Dooijes, Hanneke W. M. van Deutekom, J. Peter van Tintelen, Christian J. B. Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W. Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber…
    Citation: Genome Medicine 2023 15:73
    Content type: Research Published on:

  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
    Content type: Research Published on:

  8. T-cells play a crucial role in the adaptive immune system by triggering responses against cancer cells and pathogens, while maintaining tolerance against self-antigens, which has sparked interest in the develo...

    Authors: Chloe H. Lee, Jaesung Huh, Paul R. Buckley, Myeongjun Jang, Mariana Pereira Pinho, Ricardo A. Fernandes, Agne Antanaviciute, Alison Simmons and Hashem Koohy
    Citation: Genome Medicine 2023 15:70
    Content type: Research Published on:

  9. The immune response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in COVID-19 patients has been extensively investigated. However, much less is known about the long-term effects of ...

    Authors: Jia-Yuan Zhang, Justin P. Whalley, Julian C. Knight, Linda S. Wicker, John A. Todd and Ricardo C. Ferreira
    Citation: Genome Medicine 2023 15:69
    Content type: Research Published on:

  10. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algori...

    Authors: Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila…
    Citation: Genome Medicine 2023 15:68
    Content type: Research Published on:

  11. Cancer immunotherapies including immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR) T-cell therapy have shown variable response rates in paediatric patients highlighting the need to establish rob...

    Authors: Arash Nabbi, Pengbo Beck, Alberto Delaidelli, Derek A. Oldridge, Sumedha Sudhaman, Kelsey Zhu, S. Y. Cindy Yang, David T. Mulder, Jeffrey P. Bruce, Joseph N. Paulson, Pichai Raman, Yuankun Zhu, Adam C. Resnick, Poul H. Sorensen, Martin Sill, Sebastian Brabetz…
    Citation: Genome Medicine 2023 15:67
    Content type: Research Published on:

  12. Human bone marrow stromal cells (BMSCs) are an easily accessible and expandable progenitor population with the capacity to generate neural cell types in addition to mesoderm. Lineage tracing studies in transge...

    Authors: Zhang Changmeng, Wang Hongfei, Martin Chi-Hang Cheung, Ying-Shing Chan and Graham Ka-Hon Shea
    Citation: Genome Medicine 2023 15:66
    Content type: Research Published on:

  13. Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and have traditionally been underrepresented in cancer genomics studies. The contribution of...

    Authors: Mohammed Al-Jumaan, Hoyin Chu, Abdullah Alsulaiman, Sabrina Y. Camp, Seunghun Han, Riaz Gillani, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Al Nemer, Afnan Almuhanna, Eliezer M. Van Allen, Amein Al-Ali and Saud H. AlDubayan
    Citation: Genome Medicine 2023 15:65
    Content type: Research Published on:

  14. Viral acute respiratory illnesses (viral ARIs) contribute significantly to human morbidity and mortality worldwide, but their successful treatment requires timely diagnosis of viral etiology, which is complica...

    Authors: Rushika Pandya, Yudong D. He, Timothy E. Sweeney, Yehudit Hasin-Brumshtein and Purvesh Khatri
    Citation: Genome Medicine 2023 15:64
    Content type: Research Published on:

  15. Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homolog...

    Authors: Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg…
    Citation: Genome Medicine 2023 15:62
    Content type: Research Published on:

  16. Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence and functional region preferences. As a resu...

    Authors: Gustav Alexander Poulsgaard, Simon Grund Sørensen, Randi Istrup Juul, Morten Muhlig Nielsen and Jakob Skou Pedersen
    Citation: Genome Medicine 2023 15:63
    Content type: Research Published on:

  17. The immune response is a crucial factor for mediating the benefit of cardiac cell therapies. Our previous research showed that cardiomyocyte transplantation alters the cardiac immune response and, when combine...

    Authors: Praveen Vasudevan, Markus Wolfien, Heiko Lemcke, Cajetan Immanuel Lang, Anna Skorska, Ralf Gaebel, Anne-Marie Galow, Dirk Koczan, Tobias Lindner, Wendy Bergmann, Brigitte Mueller-Hilke, Brigitte Vollmar, Bernd Joachim Krause, Olaf Wolkenhauer, Gustav Steinhoff and Robert David
    Citation: Genome Medicine 2023 15:61
    Content type: Research Published on:

  18. Irritable bowel syndrome (IBS) often co-occurs with psychiatric and gastrointestinal disorders. A recent genome-wide association study (GWAS) identified several genetic risk variants for IBS. However, most of ...

    Authors: Markos Tesfaye, Piotr Jaholkowski, Guy F. L. Hindley, Alexey A. Shadrin, Zillur Rahman, Shahram Bahrami, Aihua Lin, Børge Holen, Nadine Parker, Weiqiu Cheng, Linn Rødevand, Oleksandr Frei, Srdjan Djurovic, Anders M. Dale, Olav B. Smeland, Kevin S. O’Connell…
    Citation: Genome Medicine 2023 15:60
    Content type: Research Published on:

  19. Changes in cell-type composition of tissues are associated with a wide range of diseases and environmental risk factors and may be causally implicated in disease development and progression. However, these shi...

    Authors: Qi Luo, Varun B. Dwaraka, Qingwen Chen, Huige Tong, Tianyu Zhu, Kirsten Seale, Joseph M. Raffaele, Shijie C. Zheng, Tavis L. Mendez, Yulu Chen, Natalia Carreras, Sofina Begum, Kevin Mendez, Sarah Voisin, Nir Eynon, Jessica A. Lasky-Su…
    Citation: Genome Medicine 2023 15:59
    Content type: Research Published on:

  20. Postmortem studies in schizophrenia consistently show reduced dendritic spines in the cerebral cortex but the mechanistic underpinnings of these deficits remain unknown. Recent genome-wide association studies ...

    Authors: Annie Kathuria, Kara Lopez-Lengowski, Bradley Watmuff and Rakesh Karmacharya
    Citation: Genome Medicine 2023 15:58
    Content type: Research Published on:

  21. SARS-CoV-2 recombinants involving the divergent Delta and Omicron lineages have been described, and one of them, “Kraken” (XBB.1.5), has recently been a matter of concern. Recombination requires the coexistenc...

    Authors: Daniel Peñas-Utrilla, Laura Pérez-Lago, Andrea Molero-Salinas, Agustín Estévez, Amadeo Sanz, Marta Herranz, Carolina Martínez-Laperche, Cristina Andrés-Zayas, Cristina Veintimilla, Pilar Catalán, Roberto Alonso, Patricia Muñoz and Darío García de Viedma
    Citation: Genome Medicine 2023 15:57
    Content type: Research Published on:

  22. Prioritizing genes that underlie complex brain disorders poses a considerable challenge. Despite previous studies have found that they shared symptoms and heterogeneity, it remained difficult to systematically...

    Authors: Xingzhong Zhao, Liting Song, Anyi Yang, Zichao Zhang, Jinglong Zhang, Yucheng T. Yang and Xing-Ming Zhao
    Citation: Genome Medicine 2023 15:56
    Content type: Research Published on:

  23. The excessive inflammatory responses provoked by SARS-CoV-2 infection are critical factors affecting the severity and mortality of COVID-19. Previous work found that two adjacent co-occurring mutations R203K a...

    Authors: Muhammad Shuaib, Sabir Adroub, Tobias Mourier, Sara Mfarrej, Huoming Zhang, Luke Esau, Afrah Alsomali, Fadwa S Alofi, Adeel Nazir Ahmad, Abbas Shamsan, Asim Khogeer, Anwar M. Hashem, Naif A. M. Almontashiri, Sharif Hala and Arnab Pain
    Citation: Genome Medicine 2023 15:54
    Content type: Research Published on:

  24. Cyclin-dependent kinase 4/6 inhibitor (CDK4/6) therapy plus endocrine therapy (ET) is an effective treatment for patients with hormone receptor-positive/human epidermal receptor 2-negative metastatic breast ca...

    Authors: Yeon Hee Park, Seock-Ah Im, Kyunghee Park, Ji Wen, Kyung-Hun Lee, Yoon-La Choi, Won-Chul Lee, Ahrum Min, Vinicius Bonato, Seri Park, Sripad Ram, Dae-Won Lee, Ji-Yeon Kim, Su Kyeong Lee, Won-Woo Lee, Jisook Lee…
    Citation: Genome Medicine 2023 15:55
    Content type: Research Published on:

  25. Alzheimer’s disease (AD) is characterized by the intra- and extracellular accumulation of amyloid-β (Aβ) peptides. How Aβ aggregates perturb the proteome in brains of patients and AD transgenic mouse models, r...

    Authors: Annett Boeddrich, Christian Haenig, Nancy Neuendorf, Eric Blanc, Andranik Ivanov, Marieluise Kirchner, Philipp Schleumann, Irem Bayraktaroğlu, Matthias Richter, Christine Mirjam Molenda, Anje Sporbert, Martina Zenkner, Sigrid Schnoegl, Christin Suenkel, Luisa-Sophie Schneider, Agnieszka Rybak-Wolf…
    Citation: Genome Medicine 2023 15:50
    Content type: Research Published on:

  26. 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
    Content type: Research Published on:

  27. Metabolic pathways are related to physiological functions and disease states and are influenced by genetic variation and environmental factors. Hispanics/Latino individuals have ancestry-derived genomic region...

    Authors: Kaylia M. Reynolds, Andrea R. V. R. Horimoto, Bridget M. Lin, Ying Zhang, Nuzulul Kurniansyah, Bing Yu, Eric Boerwinkle, Qibin Qi, Robert Kaplan, Martha Daviglus, Lifang Hou, Laura Y. Zhou, Jianwen Cai, Saame Raza Shaikh, Tamar Sofer, Sharon R. Browning…
    Citation: Genome Medicine 2023 15:52
    Content type: Research Published on:

  28. Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassificat...

    Authors: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari and Steven E. Brenner
    Citation: Genome Medicine 2023 15:51
    Content type: Research Published on:

  29. The gut microbiome is a critical modulator of host immunity and is linked to the immune response to respiratory viral infections. However, few studies have gone beyond describing broad compositional alteration...

    Authors: Long H. Nguyen, Daniel Okin, David A. Drew, Vincent M. Battista, Sirus J. Jesudasen, Thomas M. Kuntz, Amrisha Bhosle, Kelsey N. Thompson, Trenton Reinicke, Chun-Han Lo, Jacqueline E. Woo, Alexander Caraballo, Lorenzo Berra, Jacob Vieira, Ching-Ying Huang, Upasana Das Adhikari…
    Citation: Genome Medicine 2023 15:49
    Content type: Research Published on:

  30. Spatiotemporal heterogeneity originating from genomic and transcriptional variation was found to contribute to subtype switching in isocitrate dehydrogenase-1 wild-type glioblastoma (GBM) prior to and upon rec...

    Authors: Geoffroy Andrieux, Tonmoy Das, Michaela Griffin, Jakob Straehle, Simon M. L. Paine, Jürgen Beck, Melanie Boerries, Dieter H. Heiland, Stuart J. Smith, Ruman Rahman and Sajib Chakraborty
    Citation: Genome Medicine 2023 15:48
    Content type: Research Published on:

  31. Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutat...

    Authors: Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel and Esa Pitkänen
    Citation: Genome Medicine 2023 15:47
    Content type: Research Published on:

  32. Streptococcus pneumoniae is a gram-positive opportunistic pathogen, and infection risks of S. pneumoniae can be profoundly augmented by its acquired multidrug-resistance (MDR). The rapid development of MDR in S. ...

    Authors: Yuan Zeng, Yuqin Song, Lanqing Cui, Qi Wu, Chao Wang, Adriano Cappellazzo Coelho, Gang Zhang, Dawei Wei, Chao Li, Jingren Zhang, Jacques Corbeil, Yun Li and Jie Feng
    Citation: Genome Medicine 2023 15:46
    Content type: Research Published on:

  33. Dose-limiting toxicities significantly impact the benefit/risk profile of many drugs. Whole genome sequencing (WGS) in patients receiving drugs with dose-limiting toxicities can identify therapeutic hypotheses...

    Authors: Zia Khan, Min Jung, Megan Crow, Rajat Mohindra, Vidya Maiya, Joshua S. Kaminker, David H. Hackos, G. Scott Chandler, Mark I. McCarthy and Tushar Bhangale
    Citation: Genome Medicine 2023 15:45
    Content type: Research Published on:

  34. The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is typically employed in specialized clinical settings...

    Authors: Dorota Monies, Ewa Goljan, Mirna Assoum, Muna Albreacan, Faisal Binhumaid, Shazia Subhani, Abdulmlik Boureggah, Mais Hashem, Firdous Abdulwahab, Omar Abuyousef, Mohamad H. Temsah, Fahad Alsohime, James Kelaher, Mohamed Abouelhoda, Brian F. Meyer and Fowzan S. Alkuraya
    Citation: Genome Medicine 2023 15:44
    Content type: Research Published on:

  35. Genomics-informed pathogen surveillance strengthens public health decision-making, playing an important role in infectious diseases’ prevention and control. A pivotal outcome of genomics surveillance is the id...

    Authors: Verónica Mixão, Miguel Pinto, Daniel Sobral, Adriano Di Pasquale, João Paulo Gomes and Vítor Borges
    Citation: Genome Medicine 2023 15:43
    Content type: Software Published on:

  36. 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
    Content type: Review Published on:

  38. The crosstalk between cancer and the tumour immune microenvironment (TIME) has attracted significant interest in the latest years because of its impact on cancer evolution and response to treatment. Despite th...

    Authors: Hrvoje Misetic, Mohamed Reda Keddar, Jean-Pierre Jeannon and Francesca D. Ciccarelli
    Citation: Genome Medicine 2023 15:40
    Content type: Research Published on:

  39. Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). ...

    Authors: Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurélie Becker, Émeline Renard, Thomas Remen, Geneviève Lefort, Mylène Dexheimer, Philippe Jonveaux, Bruno Leheup, Céline Bonnet and Laëtitia Lambert
    Citation: Genome Medicine 2023 15:39
    Content type: Research Published on:

  40. Authors: Gabriella Assante, Sriram Chandrasekaran, Stanley Ng, Aikaterini Tourna, Carolina H. Chung, Kowsar A. Isse, Jasmine L. Banks, Ugo Soffientini, Celine Filippi, Anil Dhawan, Mo Liu, Steven G. Rozen, Matthew Hoare, Peter Campbell, J. William O. Ballard, Nigel Turner…
    Citation: Genome Medicine 2023 15:38
    Content type: Correction Published on:

    The original article was published in Genome Medicine 2022 14:67

  41. Transcriptional classification has been used to stratify colorectal cancer (CRC) into molecular subtypes with distinct biological and clinical features. However, it is not clear whether such subtypes represent...

    Authors: Silvia Cascianelli, Chiara Barbera, Alexandra Ambra Ulla, Elena Grassi, Barbara Lupo, Diego Pasini, Andrea Bertotti, Livio Trusolino, Enzo Medico, Claudio Isella and Marco Masseroli
    Citation: Genome Medicine 2023 15:37
    Content type: Research Published on:

  42. Hearing problems (HP) in adults are common and are associated with several comorbid conditions. Its prevalence increases with age, reflecting the cumulative effect of environmental factors and genetic predispo...

    Authors: Flavio De Angelis, Oana A. Zeleznik, Frank R. Wendt, Gita A. Pathak, Daniel S. Tylee, Antonella De Lillo, Dora Koller, Brenda Cabrera-Mendoza, Royce E. Clifford, Adam X. Maihofer, Caroline M. Nievergelt, Gary C. Curhan, Sharon G. Curhan and Renato Polimanti
    Citation: Genome Medicine 2023 15:36
    Content type: Research Published on:

  43. 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
    Content type: Research Published on:

  44. Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indel...

    Authors: Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen and Christian Gilissen
    Citation: Genome Medicine 2023 15:34
    Content type: Research Published on:

  45. Epigenetic characterization of cell-free DNA (cfDNA) is an emerging approach for detecting and characterizing diseases such as cancer. We developed a strategy using nanopore-based single-molecule sequencing to...

    Authors: Billy T. Lau, Alison Almeda, Marie Schauer, Madeline McNamara, Xiangqi Bai, Qingxi Meng, Mira Partha, Susan M. Grimes, HoJoon Lee, Gregory M. Heestand and Hanlee P. Ji
    Citation: Genome Medicine 2023 15:33
    Content type: Method Published on:

  46. 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
    Content type: Research Published on:

  47. Fumarate hydratase–deficient renal cell carcinoma (FH-RCC) is a rare highly aggressive subtype of kidney cancer for which the distinct genomic, transcriptomic, and evolutionary relationships between metastatic...

    Authors: Jiayu Liang, Guangxi Sun, Xiuyi Pan, Mengni Zhang, Pengfei Shen, Sha Zhu, Jinge Zhao, Linmao Zheng, Junjie Zhao, Yuntian Chen, Xiaoxue Yin, Junru Chen, Xu Hu, Yuhao Zeng, Jianhui Chen, Yongquan Wang…
    Citation: Genome Medicine 2023 15:31
    Content type: Research Published on:

  48. Single-cell RNA sequencing (scRNA-seq) provides valuable insights into human islet cell types and their corresponding stable gene expression profiles. However, this approach requires cell dissociation that com...

    Authors: Randy B. Kang, Yansui Li, Carolina Rosselot, Tuo Zhang, Mustafa Siddiq, Prashant Rajbhandari, Andrew F. Stewart, Donald K. Scott, Adolfo Garcia-Ocana and Geming Lu
    Citation: Genome Medicine 2023 15:30
    Content type: Research Published on:

  49. 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
    Content type: Research Published on:

  50. Mutations in the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), encoded by the PIK3CA gene, cause dysregulation of the PI3K pathway in 35–40% of patients with HR+/HER2– breast cancer. Preclinica...

    Authors: Katherine E. Hutchinson, Jessica W. Chen, Heidi M. Savage, Thomas J. Stout, Frauke Schimmoller, Javier Cortés, Susan Dent, Nadia Harbeck, William Jacot, Ian Krop, Sally E. Trabucco, Smruthy Sivakumar, Ethan S. Sokol and Timothy R. Wilson
    Citation: Genome Medicine 2023 15:28
    Content type: Research Published on:
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