Assante, Gabriella Chandrasekaran, Sriram Ng, Stanley Tourna, Aikaterini Chung, Carolina H. Isse, Kowsar A. Banks, Jasmine L. Soffientini, Ugo Filippi, Celine Dhawan, Anil
...
Published in
Genome Medicine
Background The incidence of non-alcoholic fatty liver disease (NAFLD)-associated hepatocellular carcinoma (HCC) is increasing worldwide, but the steps in precancerous hepatocytes which lead to HCC driver mutations are not well understood. Here we provide evidence that metabolically driven histone hyperacetylation in steatotic hepatocytes can increa...
Schobers, Gaby Schieving, Jolanda H Yntema, Helger G Pennings, Maartje Pfundt, Rolph Derks, Ronny Hofste, Tom de Wijs, Ilse Wieskamp, Nienke van den Heuvel, Simone
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Published in
Genome medicine
Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring clinician to discuss new diagnostic opportunities in due time. We performed a systematic study of genetically...
Wang, Meng Banik, Ishani Shain, A Hunter Yeh, Iwei Bastian, Boris C
Published in
Genome medicine
Acral and mucosal melanomas are aggressive subtypes of melanoma, which have a significantly lower burden of somatic mutations than cutaneous melanomas, but more frequent copy number variations, focused gene amplifications, and structural alterations. The landscapes of their genomic alterations remain to be fully characterized. We compiled sequencin...
Bartlett, Thomas E. Evans, Iona Jones, Allison Barrett, James E. Haran, Shaun Reisel, Daniel Papaikonomou, Kiriaki Jones, Louise Herzog, Chiara Pashayan, Nora
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Published in
Genome Medicine
Background Breast cancer is a leading cause of death in premenopausal women. Progesterone drives expansion of luminal progenitor cells, leading to the development of poor-prognostic breast cancers. However, it is not known if antagonising progesterone can prevent breast cancers in humans. We suggest that targeting progesterone signalling could be a...
Wang, Kai Shi, Xian Zhu, Ziwei Hao, Xingjie Chen, Liangkai Cheng, Shanshan Foo, Roger S. Y. Wang, Chaolong
Published in
Genome Medicine
Background Coronary artery disease (CAD) remains the leading cause of mortality worldwide despite enormous efforts devoted to its prevention and treatment. While many genetic loci have been identified to associate with CAD, the intermediate causal risk factors and etiology have not been fully understood. This study assesses the causal effects of 37...
Cousin, Margot A. Veale, Emma L. Dsouza, Nikita R. Tripathi, Swarnendu Holden, Robyn G. Arelin, Maria Beek, Geoffrey Bekheirnia, Mir Reza Beygo, Jasmin Bhambhani, Vikas
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Published in
Genome Medicine
Background Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic and phenotypic spectrum of KIS has yet to be described and the precise mechanism of disease fully understoo...
Lavezzo, Enrico Pacenti, Monia Manuto, Laura Boldrin, Caterina Cattai, Margherita Grazioli, Marco Bianca, Federico Sartori, Margherita Caldart, Federico Castelli, Gioele
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Published in
Genome Medicine
Background The continuous emergence of SARS-CoV-2 variants of concern (VOC) with immune escape properties, such as Delta (B.1.617.2) and Omicron (B.1.1.529), questions the extent of the antibody-mediated protection against the virus. Here we investigated the long-term antibody persistence in previously infected subjects and the extent of the antibo...
Murray, Michael F. Khoury, Muin J. Abul-Husn, Noura S.
Published in
Genome Medicine
Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and ha...
Goel, Anshita Ward, Douglas G. Noyvert, Boris Yu, Minghao Gordon, Naheema S. Abbotts, Ben Colbourne, John K. Kissane, Stephen James, Nicholas D. Zeegers, Maurice P.
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Published in
Genome Medicine
Background Three-quarters of bladder cancer patients present with early-stage disease (non-muscle-invasive bladder cancer, NMIBC, UICC TNM stages Ta, T1 and Tis); however, most next-generation sequencing studies to date have concentrated on later-stage disease (muscle-invasive BC, stages T2+). We used exome and transcriptome sequencing to comprehen...
Creaney, Jenette Patch, Ann-Marie Addala, Venkateswar Sneddon, Sophie A Nones, Katia Dick, Ian M Lee, Y C Gary Newell, Felicity Rouse, Ebony J Naeini, Marjan M
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Published in
Genome medicine
Malignant pleural mesothelioma (MPM) has a poor overall survival with few treatment options. Whole genome sequencing (WGS) combined with the immune features of MPM offers the prospect of identifying changes that could inform future clinical trials. We analysed somatic mutations from 229 MPM samples, including previously published data and 58 sample...
