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  1. Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), the current first-line tool for genetic testing of NDDs, falls short in SVs detection. Th...

    Authors: Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan and Yongguo Yu
    Citation: Genome Medicine 2024 16:113
    Content type: Research Published on:

  2. X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologica...

    Authors: Adrian F. Daly, Leslie A. Dunnington, David F. Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M. Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould…
    Citation: Genome Medicine 2024 16:112
    Content type: Research Published on:

  3. Metagenomics is a powerful approach for the detection of unknown and novel pathogens. Workflows based on Illumina short-read sequencing are becoming established in diagnostic laboratories. However, high sequen...

    Authors: Sarah Buddle, Leysa Forrest, Naomi Akinsuyi, Luz Marina Martin Bernal, Tony Brooks, Cristina Venturini, Charles Miller, Julianne R. Brown, Nathaniel Storey, Laura Atkinson, Timothy Best, Sunando Roy, Sian Goldsworthy, Sergi Castellano, Peter Simmonds, Heli Harvala…
    Citation: Genome Medicine 2024 16:111
    Content type: Research Published on:

  4. RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq enables the identification of aberrant splicing a...

    Authors: Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I. Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas and Diana Baralle
    Citation: Genome Medicine 2024 16:110
    Content type: Research Published on:

  5. The foodborne bacterium Listeria monocytogenes (Lm) causes a range of diseases, from mild gastroenteritis to invasive infections that have high fatality rate in vulnerable individuals. Understanding the populatio...

    Authors: Odion O. Ikhimiukor, Lisa Mingle, Samantha E. Wirth, Damaris V. Mendez-Vallellanes, Hannah Hoyt, Kimberlee A. Musser, William J. Wolfgang and Cheryl P. Andam
    Citation: Genome Medicine 2024 16:109
    Content type: Research Published on:

  6. Pathogenic BRCA1 or BRCA2 germline mutations contribute to hereditary breast, ovarian, prostate, and pancreatic cancer. Paradoxically, bi-allelic inactivation of BRCA1 or BRCA2 (bBRCA1/2) is embryonically lethal ...

    Authors: Yingjie Zhu, Xin Pei, Ardijana Novaj, Jeremy Setton, Daniel Bronder, Fatemeh Derakhshan, Pier Selenica, Niamh McDermott, Mehmet Orman, Sarina Plum, Shyamal Subramanyan, Sara H. Braverman, Biko McMillan, Sonali Sinha, Jennifer Ma, Andrea Gazzo…
    Citation: Genome Medicine 2024 16:108
    Content type: Research Published on:

  7. Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022–2035) w...

    Authors: Yosr Hamdi, Mediha Trabelsi, Kais Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Cherine Charfeddine, Amal Souissi, Imen Rejeb, Wafa Kammoun Rebai, Chaima Hkimi, Fadoua Neifar, Nouha Jandoubi, Rahma Mkaouar, Melek Chaouch, Ayda Bennour, Selim Kamoun…
    Citation: Genome Medicine 2024 16:104
    Content type: Research Published on:

  8. Poly (ADP-ribose) polymerase 1 and 2 (PARP1/2) inhibitors (PARPi) are targeted therapies approved for homologous recombination repair (HRR)-deficient breast, ovarian, pancreatic, and prostate cancers. Since in...

    Authors: Andrea Herencia-Ropero, Alba Llop-Guevara, Anna D. Staniszewska, Joanna Domènech-Vivó, Eduardo García-Galea, Alejandro Moles-Fernández, Flaminia Pedretti, Heura Domènech, Olga Rodríguez, Marta Guzmán, Enrique J. Arenas, Helena Verdaguer, Fernando J. Calero-Nieto, Sara Talbot, Luis Tobalina, Elisabetta Leo…
    Citation: Genome Medicine 2024 16:107
    Content type: Research Published on:

  9. Cardiovascular diseases (CVD) are a major health concern in Africa. Improved identification and treatment of high-risk individuals can reduce adverse health outcomes. Current CVD risk calculators are largely u...

    Authors: Michelle Kamp, Oliver Pain, Cathryn M. Lewis and Michèle Ramsay
    Citation: Genome Medicine 2024 16:106
    Content type: Research Published on:

  10. Colonic diverticulosis, the most common lesion found in routine colonoscopy, affects more than 50% of individuals aged ≥ 60 years. Emerging evidence suggest that dysbiosis of gut microbiota may play an importa...

    Authors: Xinwei Hua, Jessica McGoldrick, Nour Nakrour, Kyle Staller, Daniel Chulyong Chung, Ramnik Joseph Xavier and Hamed Khalili
    Citation: Genome Medicine 2024 16:105
    Content type: Research Published on:

  11. Determining the impact of somatic mutations requires understanding the functional relationship of genes acquiring mutations; however, it is largely unknown how mutations in functionally related genes influence...

    Authors: Dong-Jin Han, Sunmin Kim, Seo-Young Lee, Youngbeen Moon, Su Jung Kang, Jinseon Yoo, Hye Young Jeong, Hae Jin Cho, Jeong Yang Jeon, Byeong Chang Sim, Jaehoon Kim, Seungho Lee, Ruibin Xi and Tae-Min Kim
    Citation: Genome Medicine 2024 16:103
    Content type: Research Published on:

  12. The current standard of care treatments for medulloblastoma are insufficient as these do not take tumor heterogeneity into account. Newer, safer, patient-specific treatment approaches are required to treat hig...

    Authors: Changlin Yang, Vrunda Trivedi, Kyle Dyson, Tongjun Gu, Kate M. Candelario, Oleg Yegorov and Duane A. Mitchell
    Citation: Genome Medicine 2024 16:102
    Content type: Research Published on:

  13. The Alpe-DPD study (NCT02324452) demonstrated that prospective genotyping and dose-individualization using four alleles in DPYD (DPYD*2A/rs3918290, c.1236G > A/rs75017182, c.2846A > T/rs67376798 and c.1679 T > G/...

    Authors: Jonathan E. Knikman, Qinglian Zhai, Carin A. T. C. Lunenburg, Linda M. Henricks, Stefan Böhringer, Maaike van der Lee, Femke M. de Man, Steven M. Offer, Shikshya Shrestha, Geert-Jan Creemers, Arnold Baars, Vincent O. Dezentjé, Alexander L. T. Imholz, Frank J. F. Jeurissen, Johanna E. A. Portielje, Rob L. H. Jansen…
    Citation: Genome Medicine 2024 16:101
    Content type: Research Published on:

  14. To date, the role of NODAL in normal and abnormal L-R asymmetry has been well established. In a recent paper, mutations of this gene have been reported in heterotaxy but also in transposition with D- or L-ventric...

    Authors: Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Giulio Calcagni, Paolo Versacci and Bruno Marino
    Citation: Genome Medicine 2024 16:100
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2024 16:53

  15. There are known disparities in incidence and outcomes of colorectal cancer (CRC) by race and ethnicity. Some of these disparities may be mediated by molecular changes in tumors that occur at different rates ac...

    Authors: Brooke Rhead, David M. Hein, Yannick Pouliot, Justin Guinney, Francisco M. De La Vega and Nina N. Sanford
    Citation: Genome Medicine 2024 16:99
    Content type: Research Published on:

  16. Cancer-associated fibroblasts (CAFs) are the prominent cell type in the tumor microenvironment (TME), and CAF subsets have been identified in various tumors. However, how CAFs spatially coordinate other cell p...

    Authors: Si-yu Jing, Dan Liu, Na Feng, Hui Dong, He-qi Wang, Xi Yan, Xu-feng Chen, Min-cheng Qu, Ping Lin, Bin Yi, Feiling Feng, Lei Chen, Hong-yang Wang, Hong Li and Yu-fei He
    Citation: Genome Medicine 2024 16:98
    Content type: Research Published on:

  17. Congenital heart disease (CHD) is the most prevalent congenital anomaly, but its underlying causes are still not fully understood. It is believed that multiple rare genetic mutations may contribute to the deve...

    Authors: Xiaoxi Luo, Lifeng Liu, Haowei Rong, Xiangyang Liu, Ling Yang, Nan Li and Hongjun Shi
    Citation: Genome Medicine 2024 16:97
    Content type: Research Published on:

  18. Immunoglobulin (Ig) glycosylation modulates the immune response and plays a critical role in ageing and diseases. Studies have mainly focused on IgG glycosylation, and little is known about the genetics and ep...

    Authors: Alessia Visconti, Niccolò Rossi, Albert Bondt, Agnes Hipgrave Ederveen, Gaurav Thareja, Carolien A. M. Koeleman, Nisha Stephan, Anna Halama, Hannah J. Lomax-Browne, Matthew C. Pickering, Xu-jie Zhou, Manfred Wuhrer, Karsten Suhre and Mario Falchi
    Citation: Genome Medicine 2024 16:96
    Content type: Research Published on:

  19. Ischemic stroke elicits a complex and sustained immune response in the brain. Immunomodulatory treatments have long held promise for improving stroke outcomes, yet none have succeeded in the clinical setting. ...

    Authors: Ángela del Águila, Ran Zhang, Xinyuan Yu, Lihong Dang, Feng Xu, Jin Zhang, Vaibhav Jain, Jilin Tian, Xiao-Ping Zhong, Huaxin Sheng and Wei Yang
    Citation: Genome Medicine 2024 16:95
    Content type: Research Published on:

  20. Previous studies have identified a diverse group of microbial taxa that differ between patients with multiple sclerosis (MS) and the healthy population. However, interpreting findings on MS-associated microbio...

    Authors: Qingqi Lin, Yair Dorsett, Ali Mirza, Helen Tremlett, Laura Piccio, Erin E. Longbrake, Siobhan Ni Choileain, David A. Hafler, Laura M. Cox, Howard L. Weiner, Takashi Yamamura, Kun Chen, Yufeng Wu and Yanjiao Zhou
    Citation: Genome Medicine 2024 16:94
    Content type: Research Published on:

  21. Statins lower circulating low-density lipoprotein cholesterol (LDLC) levels and reduce cardiovascular disease risk. Though highly efficacious in general, there is considerable inter-individual variation in sta...

    Authors: Elizabeth Theusch, Flora Y. Ting, Yuanyuan Qin, Kristen Stevens, Devesh Naidoo, Sarah M. King, Neil V. Yang, Joseph Orr, Brenda Y. Han, Jason G. Cyster, Yii-Der I. Chen, Jerome I. Rotter, Ronald M. Krauss and Marisa W. Medina
    Citation: Genome Medicine 2024 16:93
    Content type: Research Published on:

  22. Black men are at a higher risk of prostate cancer (PC) diagnosis and present with more high-grade PC than White men in an equal access setting. This study aimed to identify differential transcriptional regulat...

    Authors: Minhyung Kim, Patrick Tamukong, Gloria Cecilia Galvan, Qian Yang, Amanda De Hoedt, Michael R. Freeman, Sungyong You and Stephen Freedland
    Citation: Genome Medicine 2024 16:92
    Content type: Research Published on:

  23. The identification of cancer driver genes from sequencing data has been crucial in deepening our understanding of tumor biology and expanding targeted therapy options. However, apart from the most commonly alt...

    Authors: Yi Fei Lee, Cheryl Zi Jin Phua, Ju Yuan, Bin Zhang, May Yin Lee, Srinivasaraghavan Kannan, Yui Hei Jasper Chiu, Casslynn Wei Qian Koh, Choon Kong Yap, Edwin Kok Hao Lim, Jianbin Chen, Yuhua Lim, Jane Jia Hui Lee, Anders Jacobsen Skanderup, Zhenxun Wang, Weiwei Zhai…
    Citation: Genome Medicine 2024 16:91
    Content type: Research Published on:

  24. Oesophageal adenocarcinoma (OAC) is a highly heterogeneous cancer with poor survival. Standard curative treatment is chemotherapy with or without radiotherapy followed by oesophagectomy. Genomic heterogeneity ...

    Authors: Sandra Brosda, Lauren G. Aoude, Vanessa F. Bonazzi, Kalpana Patel, James M. Lonie, Clemence J. Belle, Felicity Newell, Lambros T. Koufariotis, Venkateswar Addala, Marjan M. Naeini, John V. Pearson, Lutz Krause, Nicola Waddell and Andrew P. Barbour
    Citation: Genome Medicine 2024 16:90
    Content type: Research Published on:

  25. SARS-CoV-2 remains rapidly evolving, and many biologically important genomic substitutions/indels have characterised novel SARS-CoV-2 lineages, which have emerged during successive global waves of the pandemic...

    Authors: Hannah Goldswain, Rebekah Penrice-Randal, I’ah Donovan-Banfield, Craig W. Duffy, Xiaofeng Dong, Nadine Randle, Yan Ryan, Aleksandra M. Rzeszutek, Jack Pilgrim, Emma Keyser, Simon A. Weller, Emma J. Hutley, Catherine Hartley, Tessa Prince, Alistair C. Darby, Niall Aye Maung…
    Citation: Genome Medicine 2024 16:89
    Content type: Research Published on:

  26. One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observ...

    Authors: Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin and James S. Ware
    Citation: Genome Medicine 2024 16:88
    Content type: Research Published on:

  27. Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and a...

    Authors: Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm and Jocelyn Laporte
    Citation: Genome Medicine 2024 16:87
    Content type: Research Published on:

  28. The Mycobacterium avium complex (MAC) comprises the most frequent non-tuberculous mycobacteria (NTM) in Central Europe and currently includes twelve species. M. avium (MAV), M. intracellulare subsp. intracellular...

    Authors: Nils Wetzstein, Margo Diricks, Thomas B. Anton, Sönke Andres, Martin Kuhns, Thomas A. Kohl, Carsten Schwarz, Astrid Lewin, Jan Kehrmann, Barbara C. Kahl, Annika Schmidt, Stefan Zimmermann, Moritz K. Jansson, Sophie A. Baron, Bettina Schulthess, Michael Hogardt…
    Citation: Genome Medicine 2024 16:86
    Content type: Research Published on:

  29. Restraining or slowing ageing hallmarks at the cellular level have been proposed as a route to increased organismal lifespan and healthspan. Consequently, there is great interest in anti-ageing drug discovery....

    Authors: Celia Lujan, Eleanor Jane Tyler, Simone Ecker, Amy Philomena Webster, Eleanor Rachel Stead, Victoria Eugenia Martinez-Miguel, Deborah Milligan, James Charles Garbe, Martha Ruskin Stampfer, Stephan Beck, Robert Lowe, Cleo Lucinda Bishop and Ivana Bjedov
    Citation: Genome Medicine 2024 16:85
    Content type: Research Published on:

  30. Chronic kidney disease (CKD) is a progressive disease for which there is no effective cure. We aimed to identify potential drug targets for CKD and kidney function by integrating plasma proteome and transcript...

    Authors: Shucheng Si, Hongyan Liu, Lu Xu and Siyan Zhan
    Citation: Genome Medicine 2024 16:84
    Content type: Research Published on:

  31. Somatic copy number alterations are a hallmark of cancer that offer unique opportunities for therapeutic exploitation. Here, we focused on the identification of specific vulnerabilities for tumors harboring ch...

    Authors: Stephan Krieg, Thomas Rohde, Tobias Rausch, Luise Butthof, Lena Wendler-Link, Christoph Eckert, Kai Breuhahn, Bruno Galy, Jan Korbel, Maximilian Billmann, Marco Breinig and Darjus F. Tschaharganeh
    Citation: Genome Medicine 2024 16:83
    Content type: Research Published on:

  32. Genome-wide functional screening using the CRISPR-Cas9 system is a powerful tool to uncover tumor-specific and common genetic dependencies across cancer cell lines. Current CRISPR-Cas9 knockout libraries, howe...

    Authors: Daniel J. Merk, Linda Paul, Foteini Tsiami, Helen Hohenthanner, Ghazal Mohseni Kouchesfahani, Lara A. Haeusser, Bianca Walter, Adam Brown, Nicole S. Persky, David E. Root and Ghazaleh Tabatabai
    Citation: Genome Medicine 2024 16:82
    Content type: Research Published on:

  33. Early detection of colorectal neoplasms can reduce the colorectal cancer (CRC) burden by timely intervention for high-risk individuals. However, effective risk prediction models are lacking for personalized CR...

    Authors: Jianbo Tian, Ming Zhang, Fuwei Zhang, Kai Gao, Zequn Lu, Yimin Cai, Can Chen, Caibo Ning, Yanmin Li, Sangni Qian, Hao Bai, Yizhuo Liu, Heng Zhang, Shuoni Chen, Xiangpan Li, Yongchang Wei…
    Citation: Genome Medicine 2024 16:81
    Content type: Research Published on:

  35. Gastric cancer is the fifth most common cancer type. Most patients are diagnosed at advanced stages with poor prognosis. A non-invasive assay for the detection of early-stage gastric cancer is highly desirable...

    Authors: Pengfei Yu, Ping Chen, Min Wu, Guangyu Ding, Hua Bao, Yian Du, Zhiyuan Xu, Litao Yang, Jingquan Fang, Xingmao Huang, Qian Lai, Jia Wei, Junrong Yan, Shanshan Yang, Peng He, Xue Wu…
    Citation: Genome Medicine 2024 16:79
    Content type: Research Published on:

  36. Antimicrobial resistance (AMR) is an intensifying threat that requires urgent mitigation to avoid a post-antibiotic era. Pseudomonas aeruginosa represents one of the greatest AMR concerns due to increasing multi-...

    Authors: Danielle E. Madden, Timothy Baird, Scott C. Bell, Kate L. McCarthy, Erin P. Price and Derek S. Sarovich
    Citation: Genome Medicine 2024 16:78
    Content type: Research Published on:

  37. Colorectal cancer (CRC) arises from complex interactions between host and environment, which include the gut and tissue microbiome. It is hypothesized that epigenetic regulation by gut microbiota is a fundamen...

    Authors: Zhi Liu, Qingqing Zhang, Hong Zhang, Zhongyuan Yi, Huihui Ma, Xiaoyi Wang, Jingjing Wang, Yang Liu, Yi Zheng, Weijia Fang, Ping Huang and Xingyin Liu
    Citation: Genome Medicine 2024 16:77
    Content type: Research Published on:

  39. Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 g...

    Authors: Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán and Shannon W. Davis
    Citation: Genome Medicine 2024 16:75
    Content type: Research Published on:

  40. Polygenic prediction studies in continental Africans are scarce. Africa’s genetic and environmental diversity pose a challenge that limits the generalizability of polygenic risk scores (PRS) for body mass inde...

    Authors: Tinashe Chikowore, Kristi Läll, Lisa K. Micklesfield, Zane Lombard, Julia H. Goedecke, Segun Fatumo, Shane A. Norris, Reedik Magi, Michele Ramsay, Paul W. Franks, Guillaume Pare and Andrew P. Morris
    Citation: Genome Medicine 2024 16:74
    Content type: Research Published on:

  41. KCNE1 encodes a 129-residue cardiac potassium channel (IKs) subunit. KCNE1 variants are associated with long QT syndrome and atrial fibrillation. However, most variants have insufficient evidence of clinical con...

    Authors: Ayesha Muhammad, Maria E. Calandranis, Bian Li, Tao Yang, Daniel J. Blackwell, M. Lorena Harvey, Jeremy E. Smith, Zerubabell A. Daniel, Ashli E. Chew, John A. Capra, Kenneth A. Matreyek, Douglas M. Fowler, Dan M. Roden and Andrew M. Glazer
    Citation: Genome Medicine 2024 16:73
    Content type: Research Published on:

  42. We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of...

    Authors: Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan…
    Citation: Genome Medicine 2024 16:72
    Content type: Research Published on:

  43. The role of metabolism in the variation of age at menarche (AAM) and age at natural menopause (ANM) in the female population is not entirely known. We aimed to investigate the causal role of circulating metabo...

    Authors: Mojgan Yazdanpanah, Nahid Yazdanpanah, Isabel Gamache, Ken Ong, John R. B. Perry and Despoina Manousaki
    Citation: Genome Medicine 2024 16:69
    Content type: Research Published on:

  44. Disease prevalence and mean phenotype values differ between many populations, including Inuit and Europeans. Whether these differences are partly explained by genetic differences or solely due to differences i...

    Authors: Long Lin, Mette K. Andersen, Frederik Filip Stæger, Zilong Li, Kristian Hanghøj, Allan Linneberg, Niels Grarup, Marit Eika Jørgensen, Torben Hansen, Ida Moltke and Anders Albrechtsen
    Citation: Genome Medicine 2024 16:71
    Content type: Research Published on:

  45. Rare oncogenic driver events, particularly affecting the expression or splicing of driver genes, are suspected to substantially contribute to the large heterogeneity of hematologic malignancies. However, their...

    Authors: Xueqi Cao, Sandra Huber, Ata Jadid Ahari, Franziska R. Traube, Marc Seifert, Christopher C. Oakes, Polina Secheyko, Sergey Vilov, Ines F. Scheller, Nils Wagner, Vicente A. Yépez, Piers Blombery, Torsten Haferlach, Matthias Heinig, Leonhard Wachutka, Stephan Hutter…
    Citation: Genome Medicine 2024 16:70
    Content type: Research Published on:

  47. Inflammatory bowel disease (IBD) and Parkinson’s disease (PD) are chronic disorders that have been suggested to share common pathophysiological processes. LRRK2 has been implicated as playing a role in both disea...

    Authors: Meltem Ece Kars, Yiming Wu, Peter D. Stenson, David N. Cooper, Johan Burisch, Inga Peter and Yuval Itan
    Citation: Genome Medicine 2024 16:66
    Content type: Research Published on:

  48. Infections caused by multidrug-resistant gram-negative bacteria present a severe threat to global public health. The WHO defines drug-resistant Klebsiella pneumoniae as a priority pathogen for which alternative t...

    Authors: Eva Heinz, Oliver Pearse, Allan Zuza, Sithembile Bilima, Chisomo Msefula, Patrick Musicha, Patriciah Siyabu, Edith Tewesa, Fabrice E. Graf, Rebecca Lester, Samantha Lissauer, Jennifer Cornick, Joseph M. Lewis, Kondwani Kawaza, Nicholas R. Thomson and Nicholas A. Feasey
    Citation: Genome Medicine 2024 16:67
    Content type: Research Published on:

  49. Using computational tools, bulk transcriptomics can be deconvoluted to estimate the abundance of constituent cell types. However, existing deconvolution methods are conditioned on the assumption that the whole...

    Authors: Guanqun Meng, Yue Pan, Wen Tang, Lijun Zhang, Ying Cui, Fredrick R. Schumacher, Ming Wang, Rui Wang, Sijia He, Jeffrey Krischer, Qian Li and Hao Feng
    Citation: Genome Medicine 2024 16:65
    Content type: Method Published on:

  50. Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease. For some genes, these predicted loss-of-function variants (pLoFs) are observed throughout th...

    Authors: Robin N. Beaumont, Gareth Hawkes, Adam C. Gunning and Caroline F. Wright
    Citation: Genome Medicine 2024 16:64
    Content type: Research Published on:
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Genome Medicine

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