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  1. 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:

  2. 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

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. Liquid biopsies and the dynamic tracking of somatic mutations within circulating tumour DNA (ctDNA) can provide insight into the dynamics of cancer evolution and the intra-tumour heterogeneity that fuels treat...

    Authors: Ariana Huebner, James R. M. Black, Francesca Sarno, Roberto Pazo, Ignacio Juez, Laura Medina, Rocio Garcia-Carbonero, Carmen Guillén, Jaime Feliú, Carolina Alonso, Carlota Arenillas, Ana Belén Moreno-Cárdenas, Helena Verdaguer, Teresa Macarulla, Manuel Hidalgo, Nicholas McGranahan…
    Citation: Genome Medicine 2023 15:27
    Content type: Research Published on:

  14. Population screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention. Screening unselected individuals can identify many individuals who wil...

    Authors: Nandana D. Rao, Jailanie Kaganovsky, Emily A. Malouf, Sandy Coe, Jennifer Huey, Darwin Tsinajinne, Sajida Hassan, Kristine M. King, Stephanie M. Fullerton, Annie T. Chen and Brian H. Shirts
    Citation: Genome Medicine 2023 15:26
    Content type: Research Published on:

  15. Pathogenic germline variants (PGVs) in certain genes are linked to higher lifetime risk of developing breast cancer and can influence preventive surgery decisions and therapy choices. Public health programs of...

    Authors: Deborah F. Nacer, Johan Vallon-Christersson, Nicklas Nordborg, Hans Ehrencrona, Anders Kvist, Ã…ke Borg and Johan Staaf
    Citation: Genome Medicine 2023 15:25
    Content type: Research Published on:

  16. Roughly 50% of adult gliomas harbor isocitrate dehydrogenase (IDH) mutations. According to the 2021 WHO classification guideline, these gliomas are diagnosed as astrocytomas, harboring no 1p19q co-deletion, or ol...

    Authors: Yanfei Wei, Guanzhang Li, Jing Feng, Fan Wu, Zheng Zhao, Zhaoshi Bao, Wei Zhang, Xiaodong Su, Jiuyi Li, Xueling Qi, Zejun Duan, Yunqiu Zhang, Sandra Ferreyra Vega, Asgeir Store Jakola, Yingyu Sun, Helena Carén…
    Citation: Genome Medicine 2023 15:24
    Content type: Research Published on:

  17. 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 2023 15:23
    Content type: Correction Published on:

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

  18. We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15–20% of cases ...

    Authors: Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani…
    Citation: Genome Medicine 2023 15:22
    Content type: Research Published on:

  19. Molecular profiling of the tumour immune microenvironment (TIME) has enabled the rational choice of immunotherapies in some adult cancers. In contrast, the TIME of paediatric cancers is relatively unexplored. ...

    Authors: Chelsea Mayoh, Andrew J. Gifford, Rachael Terry, Loretta M. S. Lau, Marie Wong, Padmashree Rao, Tyler Shai-Hee, Federica Saletta, Dong-Anh Khuong-Quang, Vicky Qin, Marion K. Mateos, Deborah Meyran, Katherine E. Miller, Aysen Yuksel, Emily V. A. Mould, Rachel Bowen-James…
    Citation: Genome Medicine 2023 15:20
    Content type: Research Published on:

  20. Sex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood samples have suggested the presence of ripple effects, caused by alte...

    Authors: Mette Viuff, Anne Skakkebæk, Emma B. Johannsen, Simon Chang, Steen Bønlykke Pedersen, Katrine Meyer Lauritsen, Mette Glavind Bülow Pedersen, Christian Trolle, Jesper Just and Claus H. Gravholt
    Citation: Genome Medicine 2023 15:21
    Content type: Research Published on:

  22. Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major bottleneck for...

    Authors: Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore and Mark Yandell
    Citation: Genome Medicine 2023 15:18
    Content type: Research Published on:

  23. Next-generation sequencing (NGS) based population screening holds great promise for disease prevention and earlier diagnosis, but the costs associated with screening millions of humans remain prohibitive. New ...

    Authors: Ulrik Kristoffer Stoltze, Christian Munch Hagen, Thomas van Overeem Hansen, Anna Byrjalsen, Anne-Marie Gerdes, Victor Yakimov, Simon Rasmussen, Marie Bækvad-Hansen, David Michael Hougaard, Kjeld Schmiegelow, Henrik Hjalgrim, Karin Wadt and Jonas Bybjerg-Grauholm
    Citation: Genome Medicine 2023 15:17
    Content type: Research Published on:

  24. Although temozolomide (TMZ) has been used as a standard adjuvant chemotherapeutic agent for primary glioblastoma (GBM), treating isocitrate dehydrogenase wild-type (IDH-wt) cases remains challenging due to int...

    Authors: Yoonhee Nam, Harim Koo, Yingxi Yang, Sang Shin, Zhihan Zhu, Donggeon Kim, Hee Jin Cho, Quanhua Mu, Seung Won Choi, Jason K. Sa, Yun Jee Seo, Yejin Kim, Kyoungmin Lee, Jeong-Woo Oh, Yong-Jun Kwon, Woong-Yang Park…
    Citation: Genome Medicine 2023 15:16
    Content type: Research Published on:

  25. There has been a growing appreciation recently that mutagenic processes can be studied through the lenses of mutational signatures, which represent characteristic mutation patterns attributed to individual mut...

    Authors: Bayarbaatar Amgalan, Damian Wojtowicz, Yoo-Ah Kim and Teresa M. Przytycka
    Citation: Genome Medicine 2023 15:15
    Content type: Research Published on:

  26. Immunotherapy has revolutionized cancer treatment, but most patients are refractory to immunotherapy or acquire resistance, with the underlying mechanisms remaining to be explored.

    Authors: Junjie Hu, Lele Zhang, Haoran Xia, Yilv Yan, Xinsheng Zhu, Fenghuan Sun, Liangdong Sun, Shuangyi Li, Dianke Li, Jin Wang, Ya Han, Jing Zhang, Dongliang Bian, Huansha Yu, Yan Chen, Pengyu Fan…
    Citation: Genome Medicine 2023 15:14
    Content type: Research Published on:

  27. The incidence of early-onset colorectal cancer (EOCRC; patients < 50 years old) has been rising rapidly, whereas the EOCRC genetic susceptibility remains incompletely investigated. Here, we aimed to systematic...

    Authors: Haoxue Wang, Yimin Cai, Meng Jin, Chao Qun Huang, Caibo Ning, Siyuan Niu, Linyun Fan, Bin Li, Ming Zhang, Zequn Lu, Xuesi Dong, Zilin Luo, Rong Zhong, Heng Li, Ying Zhu, Xiaoping Miao…
    Citation: Genome Medicine 2023 15:13
    Content type: Research Published on:

  28. Epigenetic clocks can track both chronological age (cAge) and biological age (bAge). The latter is typically defined by physiological biomarkers and risk of adverse health outcomes, including all-cause mortali...

    Authors: Elena Bernabeu, Daniel L. McCartney, Danni A. Gadd, Robert F. Hillary, Ake T. Lu, Lee Murphy, Nicola Wrobel, Archie Campbell, Sarah E. Harris, David Liewald, Caroline Hayward, Cathie Sudlow, Simon R. Cox, Kathryn L. Evans, Steve Horvath, Andrew M. McIntosh…
    Citation: Genome Medicine 2023 15:12
    Content type: Research Published on:

  29. TREM2 is a transmembrane receptor expressed by myeloid cells and acts to regulate their immune response. TREM2 governs the response of microglia to amyloid and tau pathologies in the Alzheimer’s disease (AD) b...

    Authors: Miguel Moutinho, Israel Coronel, Andy P. Tsai, Gonzalo Viana Di Prisco, Taylor Pennington, Brady K. Atwood, Shweta S. Puntambekar, Daniel C. Smith, Pablo Martinez, Seonggyun Han, Younghee Lee, Cristian A. Lasagna-Reeves, Bruce T. Lamb, Stephanie J. Bissel, Kwangsik Nho and Gary E. Landreth
    Citation: Genome Medicine 2023 15:11
    Content type: Research Published on:

  30. Very low-coverage (0.1 to 1×) whole genome sequencing (WGS) has become a promising and affordable approach to discover genomic variants of human populations for genome-wide association study (GWAS). To support...

    Authors: Shumin Li, Bin Yan, Thomas K. T. Li, Jianliang Lu, Yifan Gu, Yueqiu Tan, Fei Gong, Tak-Wah Lam, Pingyuan Xie, Yuexuan Wang, Ge Lin and Ruibang Luo
    Citation: Genome Medicine 2023 15:10
    Content type: Research Published on:

  31. Klebsiella pneumoniae, which is frequently associated with hospital- and community-acquired infections, contains multidrug-resistant (MDR), hypervirulent (hv), non-MDR/non-hv as well as convergent representatives...

    Authors: Elvira R. Shaidullina, Michael Schwabe, Thomas Rohde, Valeria V. Shapovalova, Marina S. Dyachkova, Alina D. Matsvay, Yuliya A. Savochkina, Andrey A. Shelenkov, Yulia V. Mikhaylova, Katharina Sydow, François Lebreton, Evgeny A. Idelevich, Stefan E. Heiden, Karsten Becker, Roman S. Kozlov, German A. Shipulin…
    Citation: Genome Medicine 2023 15:9
    Content type: Research Published on:

  32. Efficient presentation of mutant peptide fragments by the human leukocyte antigen class I (HLA-I) genes is necessary for immune-mediated killing of cancer cells. According to recent reports, patient HLA-I geno...

    Authors: Ioan Filip, Anqi Wang, Oleksandr Kravets, Rose Orenbuch, Junfei Zhao, Tomin E. Perea-Chamblee, Gulam A. Manji, Evangelina López de Maturana, Núria Malats, Kenneth P. Olive and Raul Rabadan
    Citation: Genome Medicine 2023 15:8
    Content type: Research Published on:

  33. Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated person...

    Authors: Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin Bitzan, Lemis Yavuz, Deena Wafadari…
    Citation: Genome Medicine 2023 15:5
    Content type: Research Published on:

  34. Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

    Authors: Stefanie H. Mueller, Alvina G. Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson…
    Citation: Genome Medicine 2023 15:7
    Content type: Research Published on:

  35. Alzheimer’s disease (AD) is a genetically complex and heterogeneous disorder with multifaceted neuropathological features, including β-amyloid plaques, neurofibrillary tangles, and neuroinflammation. Over the ...

    Authors: Mehdi Jorfi, Anna Maaser-Hecker and Rudolph E. Tanzi
    Citation: Genome Medicine 2023 15:6
    Content type: Review Published on:

  36. The genetic architectures of colorectal cancer are distinct across different populations. To date, the majority of polygenic risk scores (PRSs) are derived from European (EUR) populations, which limits their a...

    Authors: Junyi Xin, Mulong Du, Dongying Gu, Kewei Jiang, Mengyun Wang, Mingjuan Jin, Yeting Hu, Shuai Ben, Silu Chen, Wei Shao, Shuwei Li, Haiyan Chu, Linjun Zhu, Chen Li, Kun Chen, Kefeng Ding…
    Citation: Genome Medicine 2023 15:4
    Content type: Research Published on:

  37. Klebsiella pneumoniae (Kp) Gram-negative bacteria cause nosocomial infections and rapidly acquire antimicrobial resistance (AMR), which makes it a global threat to human health. It also has a comparatively rare ...

    Authors: Anton Spadar, João Perdigão, Susana Campino and Taane G. Clark
    Citation: Genome Medicine 2023 15:3
    Content type: Research Published on:

  38. Diabetic nephropathy (DN) is the leading cause of end-stage renal disease, and histopathologic glomerular lesions are among the earliest structural alterations of DN. However, the signaling pathways that initi...

    Authors: Shuya Liu, Yu Zhao, Shun Lu, Tianran Zhang, Maja T. Lindenmeyer, Viji Nair, Sydney E. Gies, Guochao Wu, Robert G. Nelson, Jan Czogalla, Hande Aypek, Stephanie Zielinski, Zhouning Liao, Melanie Schaper, Damian Fermin, Clemens D. Cohen…
    Citation: Genome Medicine 2023 15:2
    Content type: Research Published on:

  39. Multiple sclerosis is a chronic immune-mediated disease of the brain and spinal cord resulting in physical and cognitive impairment in young adults. It is hypothesized that a disrupted bacterial and viral gut ...

    Authors: Florence Thirion, Finn Sellebjerg, Yong Fan, Liwei Lyu, Tue H. Hansen, Nicolas Pons, Florence Levenez, Benoit Quinquis, Evelina Stankevic, Helle B. Søndergaard, Thomas M. Dantoft, Casper S. Poulsen, Sofia K. Forslund, Henrik Vestergaard, Torben Hansen, Susanne Brix…
    Citation: Genome Medicine 2023 15:1
    Content type: Research Published on:

  40. Extra-intestinal pathogenic Escherichia coli (ExPEC) are a leading cause of bloodstream and urinary tract infections worldwide. Over the last two decades, increased rates of antibiotic resistance in E. coli have ...

    Authors: Emma G. Mills, Melissa J. Martin, Ting L. Luo, Ana C. Ong, Rosslyn Maybank, Brendan W. Corey, Casey Harless, Lan N. Preston, Joshua A. Rosado-Mendez, Scott B. Preston, Yoon I. Kwak, Michael G. Backlund, Jason W. Bennett, Patrick T. Mc Gann and Francois Lebreton
    Citation: Genome Medicine 2022 14:147
    Content type: Research Published on:

  41. The emergence of SARS-CoV-2 Omicron subvariants has raised questions regarding resistance to immunity by natural infection or immunization. We examined the sensitivity of Delta and Omicron subvariants (BA.1, B...

    Authors: Xue-Jun Wang, Lin Yao, Hong-Yun Zhang, Ka-Li Zhu, Jing Zhao, Bing-Dong Zhan, Yi-Ke Li, Xue-Juan He, Cong Huang, Zhuang-Ye Wang, Ming-Dong Jiang, Peng Yang, Yang Yang, Guo-Lin Wang, Sheng-Qi Wang, Er-Hei Dai…
    Citation: Genome Medicine 2022 14:146
    Content type: Research Published on:

  42. The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and manage...

    Authors: Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Charlotte Burns, Belinda Gray, Caroline Medi, Natalie Nowak, Julia C. Isbister, Hariharan Raju, David Richmond, Mark P. Ryan, Emma S. Singer, Raymond W. Sy, Laura Yeates…
    Citation: Genome Medicine 2022 14:145
    Content type: Research Published on:

  43. The respiratory pathogen Streptococcus pneumoniae (the pneumococcus) is a genetically diverse bacterium associated with over 101 immunologically distinct polysaccharide capsules (serotypes). Polysaccharide conjug...

    Authors: Min Jung Kwun, Alexandru V. Ion, Hsueh-Chien Cheng, Joshua C. D’Aeth, Sam Dougan, Marco R. Oggioni, David A. Goulding, Stephen D. Bentley and Nicholas J. Croucher
    Citation: Genome Medicine 2022 14:144
    Content type: Research Published on:

  44. Intratumoral heterogeneity (ITH) is a hallmark of clear cell renal cell carcinoma (ccRCC) that reflects the trajectory of evolution and influences clinical prognosis. Here, we seek to elucidate how ITH and tum...

    Authors: Mahdi Golkaram, Fengshen Kuo, Sounak Gupta, Maria I. Carlo, Michael L. Salmans, Raakhee Vijayaraghavan, Cerise Tang, Vlad Makarov, Phillip Rappold, Kyle A. Blum, Chen Zhao, Rami Mehio, Shile Zhang, Jim Godsey, Traci Pawlowski, Renzo G. DiNatale…
    Citation: Genome Medicine 2022 14:143
    Content type: Research Published on:

  45. Numerous studies have used multi-region sampling approaches to characterize intra-tumor heterogeneity (ITH) in hepatocellular carcinoma (HCC). However, conventional multi-region sampling strategies do not pres...

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

  46. Genetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are important across biomedical fields including genetic counselling, disease...

    Authors: Thomas P. Spargo, Sarah Opie-Martin, Harry Bowles, Cathryn M. Lewis, Alfredo Iacoangeli and Ammar Al-Chalabi
    Citation: Genome Medicine 2022 14:141
    Content type: Method Published on:

  47. The COVID-19 pandemic, which has a prominent social and economic impact worldwide, shows a largely unexplained male bias for the severity and mortality of the disease. Loss of chromosome Y (LOY) is a risk fact...

    Authors: Bożena Bruhn-Olszewska, Hanna Davies, Daniil Sarkisyan, Ulana Juhas, Edyta Rychlicka-Buniowska, Magdalena Wójcik, Monika Horbacz, Marcin JÄ…kalski, PaweÅ‚ Olszewski, Jakub O. Westholm, Agata Smialowska, Karol Wierzba, Ã…sa Torinsson Naluai, Niklas Jern, Lars-Magnus Andersson, Josef D. Järhult…
    Citation: Genome Medicine 2022 14:139
    Content type: Research Published on:

  48. Human proteins are widely used as drug targets. Integration of large-scale protein-level genome-wide association studies (GWAS) and disease-related GWAS has thus connected genetic variation to disease mechanis...

    Authors: Chengran Yang, Anne M. Fagan, Richard J. Perrin, Herve Rhinn, Oscar Harari and Carlos Cruchaga
    Citation: Genome Medicine 2022 14:140
    Content type: Research Published on:

  49. The fine-scale cell-free DNA fragmentation patterns in early-stage cancers are poorly understood. We developed a de novo approach to characterize the cell-free DNA fragmentation hotspots from plasma whole-geno...

    Authors: Xionghui Zhou, Haizi Zheng, Hailu Fu, Kelsey L. Dillehay McKillip, Susan M. Pinney and Yaping Liu
    Citation: Genome Medicine 2022 14:138
    Content type: Method Published on:
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