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  1. Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are c...

    Authors: Philipp Rentzsch, Max Schubach, Jay Shendure and Martin Kircher

    Citation: Genome Medicine 2021 13:31

    Content type: Research

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  2. Since early February 2021, the causative agent of COVID-19, SARS-CoV-2, has infected over 104 million people with more than 2 million deaths according to official reports. The key to understanding the biology ...

    Authors: Yanqun Wang, Daxi Wang, Lu Zhang, Wanying Sun, Zhaoyong Zhang, Weijun Chen, Airu Zhu, Yongbo Huang, Fei Xiao, Jinxiu Yao, Mian Gan, Fang Li, Ling Luo, Xiaofang Huang, Yanjun Zhang, Sook-san Wong…

    Citation: Genome Medicine 2021 13:30

    Content type: Research

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  3. The clinical utility of personal genomic information in identifying individuals at increased risks for dyslipidemia and cardiovascular diseases remains unclear.

    Authors: Claudia H. T. Tam, Cadmon K. P. Lim, Andrea O. Y. Luk, Alex C. W. Ng, Heung-man Lee, Guozhi Jiang, Eric S. H. Lau, Baoqi Fan, Raymond Wan, Alice P. S. Kong, Wing-hung Tam, Risa Ozaki, Elaine Y. K. Chow, Ka-fai Lee, Shing-chung Siu, Grace Hui…

    Citation: Genome Medicine 2021 13:29

    Content type: Research

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  4. Once antibiotic-resistant bacteria become established within the gut microbiota, they can cause infections in the host and be transmitted to other people and the environment. Currently, there are no effective ...

    Authors: Amy Langdon, Drew J. Schwartz, Christopher Bulow, Xiaoqing Sun, Tiffany Hink, Kimberly A. Reske, Courtney Jones, Carey-Ann D. Burnham, Erik R. Dubberke and Gautam Dantas

    Citation: Genome Medicine 2021 13:28

    Content type: Research

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  5. The incidence of colorectal cancer (CRC) is increasing in developing countries, yet limited research on the CRC- associated microbiota has been conducted in these areas, in part due to scarce resources, facili...

    Authors: Caroline Young, Henry M. Wood, Ramakrishnan Ayloor Seshadri, Pham Van Nang, Carlos Vaccaro, Luis Contreras Melendez, Mayilvahanan Bose, Mai Van Doi, Tamara Alejandra Piñero, Camilo Tapia Valladares, Julieta Arguero, Alba Fuentes Balaguer, Kelsey N. Thompson, Yan Yan, Curtis Huttenhower and Philip Quirke

    Citation: Genome Medicine 2021 13:27

    Content type: Research

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  6. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Cheng-Cao Sun, Wei Zhu, Shu-Jun Li, Wei Hu, Jian Zhang, Yue Zhuo, Han Zhang, Juan Wang, Yu Zhang, Shao-Xin Huang, Qi-Qiang He and De-Jia Li

    Citation: Genome Medicine 2021 13:25

    Content type: Correction

    Published on:

    The original article was published in Genome Medicine 2020 12:77

  7. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Tonći Šuštić, Sake van Wageningen, Evert Bosdriesz, Robert J. D. Reid, John Dittmar, Cor Lieftink, Roderick L. Beijersbergen, Lodewyk F. A. Wessels, Rodney Rothstein and René Bernards

    Citation: Genome Medicine 2021 13:24

    Content type: Correction

    Published on:

    The original article was published in Genome Medicine 2018 10:90

  8. We present CoronaHiT, a platform and throughput flexible method for sequencing SARS-CoV-2 genomes (≤ 96 on MinION or > 96 on Illumina NextSeq) depending on changing requirements experienced during the pandemic...

    Authors: Dave J. Baker, Alp Aydin, Thanh Le-Viet, Gemma L. Kay, Steven Rudder, Leonardo de Oliveira Martins, Ana P. Tedim, Anastasia Kolyva, Maria Diaz, Nabil-Fareed Alikhan, Lizzie Meadows, Andrew Bell, Ana Victoria Gutierrez, Alexander J. Trotter, Nicholas M. Thomson, Rachel Gilroy…

    Citation: Genome Medicine 2021 13:21

    Content type: Method

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  9. tRNA-derived small RNAs (tDRs), which are widely distributed in human tissues including blood and urine, play an important role in the progression of cancer. However, the expression of tDRs in colorectal cance...

    Authors: Yingmin Wu, Xiangling Yang, Guanmin Jiang, Haisheng Zhang, Lichen Ge, Feng Chen, Jiexin Li, Huanliang Liu and Hongsheng Wang

    Citation: Genome Medicine 2021 13:20

    Content type: Research

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  10. Basal cell carcinoma (BCC) of the skin is the most common form of human cancer, with more than 90% of tumours presenting with clear genetic activation of the Hedgehog pathway. However, polygenic risk factors a...

    Authors: Christelle Adolphe, Angli Xue, Atefeh Taherian Fard, Laura A. Genovesi, Jian Yang and Brandon J. Wainwright

    Citation: Genome Medicine 2021 13:19

    Content type: Research

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  11. Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, a...

    Authors: Chao Chen, Ru Li, Jun Sun, Yaping Zhu, Lu Jiang, Jian Li, Fang Fu, Junhui Wan, Fengyu Guo, Xiaoying An, Yaoshen Wang, Linlin Fan, Yan Sun, Xiaosen Guo, Sumin Zhao, Wanyang Wang…

    Citation: Genome Medicine 2021 13:18

    Content type: Research

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  12. Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic...

    Authors: Noura S. Abul-Husn, Emily R. Soper, Giovanna T. Braganza, Jessica E. Rodriguez, Natasha Zeid, Sinead Cullina, Dean Bobo, Arden Moscati, Amanda Merkelson, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel and Eimear E. Kenny

    Citation: Genome Medicine 2021 13:17

    Content type: Research

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  13. Accurately quantifying the risk of osteoporotic fracture is important for directing appropriate clinical interventions. While skeletal measures such as heel quantitative speed of sound (SOS) and dual-energy X-...

    Authors: Tianyuan Lu, Vincenzo Forgetta, Julyan Keller-Baruch, Maria Nethander, Derrick Bennett, Marie Forest, Sahir Bhatnagar, Robin G. Walters, Kuang Lin, Zhengming Chen, Liming Li, Magnus Karlsson, Dan Mellström, Eric Orwoll, Eugene V. McCloskey, John A. Kanis…

    Citation: Genome Medicine 2021 13:16

    Content type: Research

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  14. Pancreatic cancer (PC) is a complex disease in which both non-genetic and genetic factors interplay. To date, 40 GWAS hits have been associated with PC risk in individuals of European descent, explaining 4.1% ...

    Authors: Evangelina López de Maturana, Juan Antonio Rodríguez, Lola Alonso, Oscar Lao, Esther Molina-Montes, Isabel Adoración Martín-Antoniano, Paulina Gómez-Rubio, Rita Lawlor, Alfredo Carrato, Manuel Hidalgo, Mar Iglesias, Xavier Molero, Matthias Löhr, Christopher Michalski, José Perea, Michael O’Rorke…

    Citation: Genome Medicine 2021 13:15

    Content type: Research

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  15. Identifying the complete repertoire of genes that drive cancer in individual patients is crucial for precision oncology. Most established methods identify driver genes that are recurrently altered across patie...

    Authors: Joel Nulsen, Hrvoje Misetic, Christopher Yau and Francesca D. Ciccarelli

    Citation: Genome Medicine 2021 13:12

    Content type: Software

    Published on:

  16. Several polygenic risk scores (PRS) have been developed for cardiovascular risk prediction, but the additive value of including PRS together with conventional risk factors for risk prediction is questionable. ...

    Authors: Monica Isgut, Jimeng Sun, Arshed A. Quyyumi and Greg Gibson

    Citation: Genome Medicine 2021 13:13

    Content type: Research

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  17. Gastric cancer (GC) is a heterogenous disease consisted of several subtypes with distinct molecular traits. The clinical implication of molecular classification has been limited especially in association with ...

    Authors: Seung Tae Kim, Jason K. Sa, Sung Yong Oh, Kyung Kim, Jung Yong Hong, Won Ki Kang, Kyoung-Mee Kim and Jeeyun Lee

    Citation: Genome Medicine 2021 13:11

    Content type: Research

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  18. Personalised dietary modulation of the gut microbiota may be key to disease management. Current investigations provide a broad understanding of the impact of diet on the composition and activity of the gut mic...

    Authors: Emily R. Leeming, Panayiotis Louca, Rachel Gibson, Cristina Menni, Tim D. Spector and Caroline I. Le Roy

    Citation: Genome Medicine 2021 13:10

    Content type: Review

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  19. Enterococcus faecium is a commensal of the gastrointestinal tract of animals and humans but also a causative agent of hospital-acquired infections. Resistance against glycopeptides and to vancomycin has motivated...

    Authors: Sergio Arredondo-Alonso, Janetta Top, Jukka Corander, Rob J. L. Willems and Anita C. Schürch

    Citation: Genome Medicine 2021 13:9

    Content type: Research

    Published on:

  20. Shigella is a major diarrheal pathogen for which there is presently no vaccine. Whole genome sequencing provides the ability to predict and derive novel antigens for use as vaccines. Here, we aimed to identify no...

    Authors: Ruklanthi de Alwis, Li Liang, Omid Taghavian, Emma Werner, Hao Chung The, Trang Nguyen Hoang Thu, Vu Thuy Duong, D. Huw Davies, Philip L. Felgner and Stephen Baker

    Citation: Genome Medicine 2021 13:8

    Content type: Research

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  21. The SARS-CoV-2 pandemic is currently leading to increasing numbers of COVID-19 patients all over the world. Clinical presentations range from asymptomatic, mild respiratory tract infection, to severe cases wit...

    Authors: Anna C. Aschenbrenner, Maria Mouktaroudi, Benjamin Krämer, Marie Oestreich, Nikolaos Antonakos, Melanie Nuesch-Germano, Konstantina Gkizeli, Lorenzo Bonaguro, Nico Reusch, Kevin Baßler, Maria Saridaki, Rainer Knoll, Tal Pecht, Theodore S. Kapellos, Sarandia Doulou, Charlotte Kröger…

    Citation: Genome Medicine 2021 13:7

    Content type: Research

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  22. Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are stored in electronic health records (EHRs), and a growing number of EHRs are l...

    Authors: Jessica K. Dennis, Julia M. Sealock, Peter Straub, Younga H. Lee, Donald Hucks, Ky’Era Actkins, Annika Faucon, Yen-Chen Anne Feng, Tian Ge, Slavina B. Goleva, Maria Niarchou, Kritika Singh, Theodore Morley, Jordan W. Smoller, Douglas M. Ruderfer, Jonathan D. Mosley…

    Citation: Genome Medicine 2021 13:6

    Content type: Research

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  23. Ebola virus disease (EVD) is an often-fatal infection where the effectiveness of medical countermeasures is uncertain. During the West African outbreak (2013–2016), several patients were treated with different...

    Authors: Andrew Bosworth, Natasha Y. Rickett, Xiaofeng Dong, Lisa F. P. Ng, Isabel García-Dorival, David A. Matthews, Tom Fletcher, Michael Jacobs, Emma C. Thomson, Miles W. Carroll and Julian A. Hiscox

    Citation: Genome Medicine 2021 13:5

    Content type: Research

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  24. During COVID-19, diagnostic serological tools and vaccines have been developed. To inform control activities in a post-vaccine surveillance setting, we have developed an online “immuno-analytics” resource that...

    Authors: Daniel Ward, Matthew Higgins, Jody E. Phelan, Martin L. Hibberd, Susana Campino and Taane G. Clark

    Citation: Genome Medicine 2021 13:4

    Content type: Database

    Published on:

  25. Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population sc...

    Authors: Yasmin Bylstra, Weng Khong Lim, Sylvia Kam, Koei Wan Tham, R. Ryanne Wu, Jing Xian Teo, Sonia Davila, Jyn Ling Kuan, Sock Hoai Chan, Nicolas Bertin, Cheng Xi Yang, Steve Rozen, Bin Tean Teh, Khung Keong Yeo, Stuart Alexander Cook, Saumya Shekhar Jamuar…

    Citation: Genome Medicine 2021 13:3

    Content type: Research

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  26. The apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late onset Alzheimer’s disease, whilst the ε2 allele confers protection. Previous studies report differential DNA methylation of APOE

    Authors: Rosie M. Walker, Kadi Vaher, Mairead L. Bermingham, Stewart W. Morris, Andrew D. Bretherick, Yanni Zeng, Konrad Rawlik, Carmen Amador, Archie Campbell, Chris S. Haley, Caroline Hayward, David J. Porteous, Andrew M. McIntosh, Riccardo E. Marioni and Kathryn L. Evans

    Citation: Genome Medicine 2021 13:1

    Content type: Research

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  27. The identification of genetic variation that directly impacts infection susceptibility to SARS-CoV-2 and disease severity of COVID-19 is an important step towards risk stratification, personalized treatment pl...

    Authors: Yu-Chung Lin, Jennifer D. Brooks, Shelley B. Bull, France Gagnon, Celia M. T. Greenwood, Rayjean J. Hung, Jerald Lawless, Andrew D. Paterson, Lei Sun and Lisa J. Strug

    Citation: Genome Medicine 2020 12:115

    Content type: Correspondence

    Published on:

  28. Tuberculosis, caused by bacteria in the Mycobacterium tuberculosis complex (MTBC), is a major global public health burden. Strain-specific genomic diversity in the known lineages of MTBC is an important factor in...

    Authors: Gary Napier, Susana Campino, Yared Merid, Markos Abebe, Yimtubezinash Woldeamanuel, Abraham Aseffa, Martin L. Hibberd, Jody Phelan and Taane G. Clark

    Citation: Genome Medicine 2020 12:114

    Content type: Research

    Published on:

  29. Antibiotic-resistant Klebsiella pneumoniae are a major cause of hospital- and community-acquired infections, including sepsis, liver abscess, and pneumonia, driven mainly by the emergence of successful high-risk ...

    Authors: Stefan E. Heiden, Nils-Olaf Hübner, Jürgen A. Bohnert, Claus-Dieter Heidecke, Axel Kramer, Veronika Balau, Wolfgang Gierer, Stephan Schaefer, Tim Eckmanns, Sören Gatermann, Elias Eger, Sebastian Guenther, Karsten Becker and Katharina Schaufler

    Citation: Genome Medicine 2020 12:113

    Content type: Research

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  30. Circular RNAs (circRNAs) are stable, often highly expressed RNA transcripts with potential to modulate other regulatory RNAs. A few circRNAs have been shown to bind RNA-binding proteins (RBPs); however, little...

    Authors: Trine Line Hauge Okholm, Shashank Sathe, Samuel S. Park, Andreas Bjerregaard Kamstrup, Asta Mannstaedt Rasmussen, Archana Shankar, Zong Ming Chua, Niels Fristrup, Morten Muhlig Nielsen, Søren Vang, Lars Dyrskjøt, Stefan Aigner, Christian Kroun Damgaard, Gene W. Yeo and Jakob Skou Pedersen

    Citation: Genome Medicine 2020 12:112

    Content type: Research

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  31. The recent emergence and dissemination of high-level mobile tigecycline resistance Tet(X) challenge the clinical effectiveness of tigecycline, one of the last-resort therapeutic options for complicated infecti...

    Authors: Chong Chen, Chao-Yue Cui, Jun-Jun Yu, Qian He, Xiao-Ting Wu, Yu-Zhang He, Ze-Hua Cui, Cang Li, Qiu-Lin Jia, Xiang-Guang Shen, Ruan-Yang Sun, Xi-Ran Wang, Min-Ge Wang, Tian Tang, Yan Zhang, Xiao-Ping Liao…

    Citation: Genome Medicine 2020 12:111

    Content type: Research

    Published on:

  32. Comprehensive molecular profiling has revealed somatic variations in cancer at genomic, epigenomic, transcriptomic, and proteomic levels. The accumulating data has shown clearly that molecular phenotypes of ca...

    Authors: Arshi Arora, Adam B. Olshen, Venkatraman E. Seshan and Ronglai Shen

    Citation: Genome Medicine 2020 12:110

    Content type: Research

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  33. Whole exome sequencing has been increasingly used in human disease studies. Prioritization based on appropriate functional annotations has been used as an indispensable step to select candidate variants. Here ...

    Authors: Xiaoming Liu, Chang Li, Chengcheng Mou, Yibo Dong and Yicheng Tu

    Citation: Genome Medicine 2020 12:103

    Content type: Database

    Published on:

  34. The rising prevalence of type 2 diabetes (T2D) poses a major global challenge. It remains unresolved to what extent transcriptomic signatures of metabolic dysregulation and T2D can be observed in easily access...

    Authors: Valborg Gudmundsdottir, Helle Krogh Pedersen, Gianluca Mazzoni, Kristine H. Allin, Anna Artati, Joline W. Beulens, Karina Banasik, Caroline Brorsson, Henna Cederberg, Elizaveta Chabanova, Federico De Masi, Petra J. Elders, Ian Forgie, Giuseppe N. Giordano, Harald Grallert, Ramneek Gupta…

    Citation: Genome Medicine 2020 12:109

    Content type: Research

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  35. Corynebacterium diphtheriae, the agent of diphtheria, is a genetically diverse bacterial species. Although antimicrobial resistance has emerged against several drugs including first-line penicillin, the genomic d...

    Authors: Melanie Hennart, Leonardo G. Panunzi, Carla Rodrigues, Quentin Gaday, Sarah L. Baines, Marina Barros-Pinkelnig, Annick Carmi-Leroy, Melody Dazas, Anne Marie Wehenkel, Xavier Didelot, Julie Toubiana, Edgar Badell and Sylvain Brisse

    Citation: Genome Medicine 2020 12:107

    Content type: Research

    Published on:

  36. Genome-wide association studies (GWAS) have identified pervasive sharing of genetic architectures across multiple immune-mediated diseases (IMD). By learning the genetic basis of IMD risk from common diseases,...

    Authors: Oliver S. Burren, Guillermo Reales, Limy Wong, John Bowes, James C. Lee, Anne Barton, Paul A. Lyons, Kenneth G. C. Smith, Wendy Thomson, Paul D. W. Kirk and Chris Wallace

    Citation: Genome Medicine 2020 12:106

    Content type: Research

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  37. DNA methylation has been shown to be associated with adiposity in adulthood. However, whether similar DNA methylation patterns are associated with childhood and adolescent body mass index (BMI) is largely unkn...

    Authors: Florianne O. L. Vehmeijer, Leanne K. Küpers, Gemma C. Sharp, Lucas A. Salas, Samantha Lent, Dereje D. Jima, Gwen Tindula, Sarah Reese, Cancan Qi, Olena Gruzieva, Christian Page, Faisal I. Rezwan, Philip E. Melton, Ellen Nohr, Geòrgia Escaramís, Peter Rzehak…

    Citation: Genome Medicine 2020 12:105

    Content type: Research

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  38. Multidrug-resistant (MDR) Mycobacterium tuberculosis complex strains not detected by commercial molecular drug susceptibility testing (mDST) assays due to the RpoB I491F resistance mutation are threatening the co...

    Authors: Patrick Beckert, Elisabeth Sanchez-Padilla, Matthias Merker, Viola Dreyer, Thomas A. Kohl, Christian Utpatel, Claudio U. Köser, Ivan Barilar, Nazir Ismail, Shaheed Vally Omar, Marisa Klopper, Robin M. Warren, Harald Hoffmann, Gugu Maphalala, Elisa Ardizzoni, Bouke C. de Jong…

    Citation: Genome Medicine 2020 12:104

    Content type: Research

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  39. The gut-liver axis plays a pivotal role in the pathogenesis of hepatocellular carcinoma (HCC). However, the correlations between the gut microbiome and the liver tumor transcriptome in patients with HCC and th...

    Authors: Hechen Huang, Zhigang Ren, Xingxing Gao, Xiaoyi Hu, Yuan Zhou, Jianwen Jiang, Haifeng Lu, Shengyong Yin, Junfang Ji, Lin Zhou and Shusen Zheng

    Citation: Genome Medicine 2020 12:102

    Content type: Research

    Published on:

  40. Heat shock proteins (HSPs), a representative family of chaperone genes, play crucial roles in malignant progression and are pursued as attractive anti-cancer therapeutic targets. Despite tremendous efforts to ...

    Authors: Zhao Zhang, Ji Jing, Youqiong Ye, Zhiao Chen, Ying Jing, Shengli Li, Wei Hong, Hang Ruan, Yaoming Liu, Qingsong Hu, Jun Wang, Wenbo Li, Chunru Lin, Lixia Diao, Yubin Zhou and Leng Han

    Citation: Genome Medicine 2020 12:101

    Content type: Research

    Published on:

  41. Polygenic risk scores (PRSs) are a summarization of an individual’s genetic risk for a disease or trait. These scores are being generated in research and commercial settings to study how they may be used to gu...

    Authors: Shang-Fu Chen, Raquel Dias, Doug Evans, Elias L. Salfati, Shuchen Liu, Nathan E. Wineinger and Ali Torkamani

    Citation: Genome Medicine 2020 12:100

    Content type: Research

    Published on:

  42. Tight regulatory loops orchestrate commitment to B cell fate within bone marrow. Genetic lesions in this gene regulatory network underlie the emergence of the most common childhood cancer, acute lymphoblastic ...

    Authors: Juha Mehtonen, Susanna Teppo, Mari Lahnalampi, Aleksi Kokko, Riina Kaukonen, Laura Oksa, Maria Bouvy-Liivrand, Alena Malyukova, Artturi Mäkinen, Saara Laukkanen, Petri I. Mäkinen, Samuli Rounioja, Pekka Ruusuvuori, Olle Sangfelt, Riikka Lund, Tapio Lönnberg…

    Citation: Genome Medicine 2020 12:99

    Content type: Research

    Published on:

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