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  1. The activation of the telomere maintenance mechanism (TMM) is one of the critical drivers of cancer cell immortality. In gliomas, TERT expression and TERT promoter mutation are considered to reliably indicate tel...

    Authors: Sojin Kim, Tamrin Chowdhury, Hyeon Jong Yu, Jee Ye Kahng, Chae Eun Lee, Seung Ah. Choi, Kyung-Min Kim, Ho Kang, Joo Ho Lee, Soon-Tae Lee, Jae-Kyung Won, Kyung Hyun Kim, Min-Sung Kim, Ji Yeoun Lee, Jin Wook Kim, Yong-Hwy Kim…
    Citation: Genome Medicine 2022 14:88
    Content type: Research Published on:

  2. Subclonal evolution during primary breast cancer treatment is largely unexplored. We aimed to assess the dynamic changes in subclonal composition of treatment-naïve breast cancers during neoadjuvant chemotherapy.

    Authors: Andreas Venizelos, Christina Engebrethsen, Wei Deng, Jürgen Geisler, Stephanie Geisler, Gjertrud T. Iversen, Turid Aas, Hildegunn S. Aase, Manouchehr Seyedzadeh, Eli Sihn Steinskog, Ola Myklebost, Sigve Nakken, Daniel Vodak, Eivind Hovig, Leonardo A. Meza-Zepeda, Per E. Lønning…
    Citation: Genome Medicine 2022 14:86
    Content type: Research Published on:

  3. Rare diseases collectively affect up to 10% of the population, but often lack effective treatment, and typically little is known about their pathophysiology. Major challenges include suboptimal phenotype mappi...

    Authors: Matthew T. Patrick, Redina Bardhi, Wei Zhou, James T. Elder, Johann E. Gudjonsson and Lam C. Tsoi
    Citation: Genome Medicine 2022 14:85
    Content type: Research Published on:

  4. Authors: Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, Anne Boland, Jean-François Deleuze, Robert Olaso, Flora Alarcon, Dominique Campion, Grégory Nuel and Gaël Nicolas
    Citation: Genome Medicine 2022 14:83
    Content type: Publisher Correction Published on:

    The original article was published in Genome Medicine 2022 14:69

  5. Small intestinal neuroendocrine tumors (SI-NETs) are the most common neoplasms of the small bowel. The majority of tumors are located in the distal ileum with a high incidence of multiple synchronous primary t...

    Authors: Netta Mäkinen, Meng Zhou, Zhouwei Zhang, Yosuke Kasai, Elizabeth Perez, Grace E. Kim, Chrissie Thirlwell, Eric Nakakura and Matthew Meyerson
    Citation: Genome Medicine 2022 14:82
    Content type: Research Published on:

  6. Stopgain substitutions are the third-largest class of monogenic human disease mutations and often examined first in patient exomes. Existing computational stopgain pathogenicity predictors, however, exhibit po...

    Authors: Ruchir Rastogi, Peter D. Stenson, David N. Cooper and Gill Bejerano
    Citation: Genome Medicine 2022 14:81
    Content type: Method Published on:

  7. The interaction between the metabolic activities of the intestinal microbiome and its host forms an important part of health. The basis of this interaction is in part mediated by the release of microbially-der...

    Authors: Timothy O. Cox, Patrick Lundgren, Kirti Nath and Christoph A. Thaiss
    Citation: Genome Medicine 2022 14:80
    Content type: Review Published on:

  8. Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinic...

    Authors: Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas…
    Citation: Genome Medicine 2022 14:79
    Content type: Research Published on:

  9. Synovial fibroblasts (SFs) are specialized cells of the synovium that provide nutrients and lubricants for the proper function of diarthrodial joints. Recent evidence appreciates the contribution of SF heterog...

    Authors: Marietta Armaka, Dimitris Konstantopoulos, Christos Tzaferis, Matthieu D. Lavigne, Maria Sakkou, Anastasios Liakos, Petros P. Sfikakis, Meletios A. Dimopoulos, Maria Fousteri and George Kollias
    Citation: Genome Medicine 2022 14:78
    Content type: Research Published on:

  10. The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The rema...

    Authors: Richard C. Caswell, Adam C. Gunning, Martina M. Owens, Sian Ellard and Caroline F. Wright
    Citation: Genome Medicine 2022 14:77
    Content type: Research Published on:

  11. Authors: Thomas E. Bartlett, Iona Evans, Allison Jones, James E. Barrett, Shaun Haran, Daniel Reisel, Kiriaki Papaikonomou, Louise Jones, Chiara Herzog, Nora Pashayan, Bruno M. Simões, Robert B. Clarke, D. Gareth Evans, Talayeh S. Ghezelayagh, Sakthivignesh Ponandai-Srinivasan, Nageswara R. Boggavarapu…
    Citation: Genome Medicine 2022 14:76
    Content type: Correction Published on:

    The original article was published in Genome Medicine 2022 14:64

  12. The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however...

    Authors: Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman…
    Citation: Genome Medicine 2022 14:73
    Content type: Guideline Published on:

  13. There is considerable evidence for the importance of the DNA methylome in metabolic health, for example, a robust methylation signature has been associated with body mass index (BMI). However, visceral fat (VF...

    Authors: Colette Christiansen, Max Tomlinson, Melissa Eliot, Emma Nilsson, Ricardo Costeira, Yujing Xia, Sergio Villicaña, Olatz Mompeo, Philippa Wells, Juan Castillo-Fernandez, Louis Potier, Marie-Claude Vohl, Andre Tchernof, Julia El-Sayed Moustafa, Cristina Menni, Claire J. Steves…
    Citation: Genome Medicine 2022 14:75
    Content type: Research Published on:

  14. Antimicrobial resistance (AMR) is rising at an alarming rate and complicating the management of infectious diseases including lower respiratory tract infections (LRTI). Metagenomic next-generation sequencing (...

    Authors: Paula Hayakawa Serpa, Xianding Deng, Mazin Abdelghany, Emily Crawford, Katherine Malcolm, Saharai Caldera, Monica Fung, Aaron McGeever, Katrina L. Kalantar, Amy Lyden, Rajani Ghale, Thomas Deiss, Norma Neff, Steven A. Miller, Sarah B. Doernberg, Charles Y. Chiu…
    Citation: Genome Medicine 2022 14:74
    Content type: Research Published on:

  15. Immune checkpoint blockade (ICB) therapy has revolutionized the treatment of lung squamous cell carcinoma (LUSC). However, a significant proportion of patients with high tumour PD-L1 expression remain resistan...

    Authors: Minglei Yang, Chenghao Lin, Yanni Wang, Kang Chen, Haiyue Zhang and Weizhong Li
    Citation: Genome Medicine 2022 14:72
    Content type: Research Published on:

  16. Here, we report a lack of diversity in epigenome-wide association studies (EWAS) and DNA methylation (DNAm) data, discuss current challenges, and propose solutions for EWAS and DNAm research in diverse populat...

    Authors: Charles E. Breeze, Jason Y. Y. Wong, Stephan Beck, Sonja I. Berndt and Nora Franceschini
    Citation: Genome Medicine 2022 14:71
    Content type: Comment Published on:

  17. Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and environmental risk factors that disproportionately afflicts communities of color. Leveraging existing large-scale genome-wide association...

    Authors: Tian Ge, Marguerite R. Irvin, Amit Patki, Vinodh Srinivasasainagendra, Yen-Feng Lin, Hemant K. Tiwari, Nicole D. Armstrong, Barbara Benoit, Chia-Yen Chen, Karmel W. Choi, James J. Cimino, Brittney H. Davis, Ozan Dikilitas, Bethany Etheridge, Yen-Chen Anne Feng, Vivian Gainer…
    Citation: Genome Medicine 2022 14:70
    Content type: Research Published on:

  18. Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance i...

    Authors: Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, Anne Boland, Jean-François Deleuze, Robert Olaso, Flora Alarcon, Dominique Campion, Grégory Nuel and Gaël Nicolas
    Citation: Genome Medicine 2022 14:69
    Content type: Research Published on:

    The Publisher Correction to this article has been published in Genome Medicine 2022 14:83

  19. Single-cell transcriptomics (scRNA-seq) has become essential for biomedical research over the past decade, particularly in developmental biology, cancer, immunology, and neuroscience. Most commercially availab...

    Authors: Cameron G. Williams, Hyun Jae Lee, Takahiro Asatsuma, Roser Vento-Tormo and Ashraful Haque
    Citation: Genome Medicine 2022 14:68
    Content type: Review Published on:

  20. 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 no...

    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 2022 14:67
    Content type: Research Published on:

    The Correction to this article has been published in Genome Medicine 2023 15:38

  21. 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 advis...

    Authors: Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg…
    Citation: Genome Medicine 2022 14:66
    Content type: Research Published on:

  23. 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 kn...

    Authors: Thomas E. Bartlett, Iona Evans, Allison Jones, James E. Barrett, Shaun Haran, Daniel Reisel, Kiriaki Papaikonomou, Louise Jones, Chiara Herzog, Nora Pashayan, Bruno M. Simões, Robert B. Clarke, D. Gareth Evans, Talayeh S. Ghezelayagh, Sakthivignesh Ponandai-Srinivasan, Nageswara R. Boggavarapu…
    Citation: Genome Medicine 2022 14:64
    Content type: Research Published on:

    The Correction to this article has been published in Genome Medicine 2022 14:76

  24. 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 C...

    Authors: Kai Wang, Xian Shi, Ziwei Zhu, Xingjie Hao, Liangkai Chen, Shanshan Cheng, Roger S. Y. Foo and Chaolong Wang
    Citation: Genome Medicine 2022 14:63
    Content type: Research Published on:

  25. 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 (...

    Authors: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne…
    Citation: Genome Medicine 2022 14:62
    Content type: Research Published on:

  26. 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 again...

    Authors: Enrico Lavezzo, Monia Pacenti, Laura Manuto, Caterina Boldrin, Margherita Cattai, Marco Grazioli, Federico Bianca, Margherita Sartori, Federico Caldart, Gioele Castelli, Michele Nicoletti, Eleonora Nieddu, Elisa Salvadoretti, Beatrice Labella, Ludovico Fava, Maria Cristina Vanuzzo…
    Citation: Genome Medicine 2022 14:61
    Content type: Research Published on:

  28. 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 ...

    Authors: Anshita Goel, Douglas G. Ward, Boris Noyvert, Minghao Yu, Naheema S. Gordon, Ben Abbotts, John K. Colbourne, Stephen Kissane, Nicholas D. James, Maurice P. Zeegers, Kar Keung Cheng, Jean-Baptiste Cazier, Celina M. Whalley, Andrew D. Beggs, Claire Palles, Roland Arnold…
    Citation: Genome Medicine 2022 14:59
    Content type: Research Published on:

  29. 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 th...

    Authors: Jenette Creaney, Ann-Marie Patch, Venkateswar Addala, Sophie A. Sneddon, Katia Nones, Ian M. Dick, Y. C. Gary Lee, Felicity Newell, Ebony J. Rouse, Marjan M. Naeini, Olga Kondrashova, Vanessa Lakis, Apostolos Nakas, David Waller, Annabel Sharkey, Pamela Mukhopadhyay…
    Citation: Genome Medicine 2022 14:58
    Content type: Research Published on:

  30. A recent study highlights the presence of a unique memory-like natural killer (NK) cell subset, which accumulates with aging and appears to associate withdisease severity in COVID-19 patients. While the clinic...

    Authors: Dandan Wang and Subramaniam Malarkannan
    Citation: Genome Medicine 2022 14:57
    Content type: Research Highlight Published on:

    The Research to this article has been published in Genome Medicine 2022 14:46

  31. We describe a case series of five infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Children’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati...

    Authors: Nour Halabi, Sathishkumar Ramaswamy, Maha El Naofal, Alan Taylor, Sawsan Yaslam, Ruchi Jain, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Hamda Abulhoul, Shiva Shankar, Dalwinder Janjua, Devendrasing Jadhav, Munira Mahmoud Al Maazmi, Walid Abuhammour…
    Citation: Genome Medicine 2022 14:56
    Content type: Correspondence Published on:

  32. Genome-wide association studies of asthma have revealed robust associations with variation across the human leukocyte antigen (HLA) complex with independent associations in the HLA class I and class II regions...

    Authors: Selene M. Clay, Nathan Schoettler, Andrew M. Goldstein, Peter Carbonetto, Matthew Dapas, Matthew C. Altman, Mario G. Rosasco, James E. Gern, Daniel J. Jackson, Hae Kyung Im, Matthew Stephens, Dan L. Nicolae and Carole Ober
    Citation: Genome Medicine 2022 14:55
    Content type: Research Published on:

  33. Low-energy diets (LEDs) comprise commercially formulated food products that provide between 800 and 1200 kcal/day (3.3–5 MJ/day) to aid body weight loss. Recent small-scale studies suggest that LEDs are associ...

    Authors: Ching Jian, Marta Paulino Silvestre, Danielle Middleton, Katri Korpela, Elli Jalo, David Broderick, Willem Meindert de Vos, Mikael Fogelholm, Mike William Taylor, Anne Raben, Sally Poppitt and Anne Salonen
    Citation: Genome Medicine 2022 14:54
    Content type: Research Published on:

  34. Genome-wide association studies (GWASs) have identified multiple risk loci for bipolar disorder (BD). However, pinpointing functional (or causal) variants in the reported risk loci and elucidating their regula...

    Authors: Rui Chen, Zhihui Yang, Jiewei Liu, Xin Cai, Yongxia Huo, Zhijun Zhang, Ming Li, Hong Chang and Xiong-Jian Luo
    Citation: Genome Medicine 2022 14:53
    Content type: Research Published on:

  35. Stool is an important diagnostic specimen for tuberculosis in populations who struggle to provide sputum, such as children or people living with HIV. However, the culture of Mycobacterium tuberculosis (M. tubercu...

    Authors: Doctor B. Sibandze, Alexander Kay, Viola Dreyer, Welile Sikhondze, Qiniso Dlamini, Andrew DiNardo, Godwin Mtetwa, Bhekumusa Lukhele, Debrah Vambe, Christoph Lange, Muyalo Glenn Dlamini, Tara Ness, Rojelio Mejia, Barbara Kalsdorf, Jan Heyckendorf, Martin Kuhns…
    Citation: Genome Medicine 2022 14:52
    Content type: Research Published on:

    The Author Correction to this article has been published in Genome Medicine 2022 14:107

  36. Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain.

    Authors: Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuno, Anna González-Neira, Stephan M. Heijl, Muriel A. Adank, Thomas U. Ahearn, Irene L. Andrulis, Päivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova…
    Citation: Genome Medicine 2022 14:51
    Content type: Research Published on:

  37. Hepatocellular carcinoma (HCC) is a common primary liver cancer with poor overall survival. We hypothesized that there are HCC-associated cell-types that impact patient survival.

    Authors: Marcus Alvarez, Jihane N. Benhammou, Nicholas Darci-Maher, Samuel W. French, Steven B. Han, Janet S. Sinsheimer, Vatche G. Agopian, Joseph R. Pisegna and Päivi Pajukanta
    Citation: Genome Medicine 2022 14:50
    Content type: Research Published on:

  38. Recent investigations of the meninges have highlighted the importance of the dura layer in central nervous system immune surveillance beyond a purely structural role. However, our understanding of the meninges...

    Authors: Anthony Z. Wang, Jay A. Bowman-Kirigin, Rupen Desai, Liang-I Kang, Pujan R. Patel, Bhuvic Patel, Saad M. Khan, Diane Bender, M. Caleb Marlin, Jingxian Liu, Joshua W. Osbun, Eric C. Leuthardt, Michael R. Chicoine, Ralph G. Dacey Jr, Gregory J. Zipfel, Albert H. Kim…
    Citation: Genome Medicine 2022 14:49
    Content type: Research Published on:

  39. Medical digital twins are computational disease models for drug discovery and treatment. Unresolved problems include how to organize and prioritize between disease-associated changes in digital twins, on cellu...

    Authors: Xinxiu Li, Eun Jung Lee, Sandra Lilja, Joseph Loscalzo, Samuel Schäfer, Martin Smelik, Maria Regina Strobl, Oleg Sysoev, Hui Wang, Huan Zhang, Yelin Zhao, Danuta R. Gawel, Barbara Bohle and Mikael Benson
    Citation: Genome Medicine 2022 14:48
    Content type: Research Published on:

  40. In early 2021, the SARS-CoV-2 lineage B.1.1.7 (Alpha variant) became dominant across large parts of the world. In Denmark, comprehensive and real-time test, contact-tracing, and sequencing efforts were applied...

    Authors: Thomas Y. Michaelsen, Marc Bennedbæk, Lasse E. Christiansen, Mia S. F. Jørgensen, Camilla H. Møller, Emil A. Sørensen, Simon Knutsson, Jakob Brandt, Thomas B. N. Jensen, Clarisse Chiche-Lapierre, Emilio F. Collados, Trine Sørensen, Celine Petersen, Vang Le-Quy, Mantas Sereika, Frederik T. Hansen…
    Citation: Genome Medicine 2022 14:47
    Content type: Research Published on:

  41. Natural killer (NK) cells are innate lymphoid cells that mediate antitumour and antiviral responses. However, very little is known about how ageing influences human NK cells, especially at the single-cell level.

    Authors: Chuang Guo, Mingming Wu, Beibei Huang, Rui Zhao, Linlin Jin, Binqing Fu, Ping Wang, Dongyao Wang, Meijuan Zheng, Jingwen Fang, Haiming Wei, Kun Qu and Fang Ni
    Citation: Genome Medicine 2022 14:46
    Content type: Research Published on:

    The Research Highlight to this article has been published in Genome Medicine 2022 14:57

  42. Although immune checkpoint inhibitor (ICI) is regarded as a breakthrough in cancer therapy, only a limited fraction of patients benefit from it. Cancer stemness can be the potential culprit in ICI resistance, ...

    Authors: Zhen Zhang, Zi-Xian Wang, Yan-Xing Chen, Hao-Xiang Wu, Ling Yin, Qi Zhao, Hui-Yan Luo, Zhao-Lei Zeng, Miao-Zhen Qiu and Rui-Hua Xu
    Citation: Genome Medicine 2022 14:45
    Content type: Research Published on:

  43. Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensi...

    Authors: Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley and Peter N. Robinson
    Citation: Genome Medicine 2022 14:44
    Content type: Method Published on:

  44. The taxonomic structure of microbial community sample is highly habitat-specific, making source tracking possible, allowing identification of the niches where samples originate. However, current methods face c...

    Authors: Yuguo Zha, Hui Chong, Hao Qiu, Kai Kang, Yuzheng Dun, Zhixue Chen, Xuefeng Cui and Kang Ning
    Citation: Genome Medicine 2022 14:43
    Content type: Method Published on:

  45. Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery....

    Authors: Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida…
    Citation: Genome Medicine 2022 14:40
    Content type: Research Published on:

  46. Breast milk is a vehicle to transfer protective antibodies from the lactating mother to the neonate. After SARS-CoV-2 infection, virus-specific IgA and IgG have been identified in breast milk, however, there a...

    Authors: Marta Selma-Royo, Christine Bäuerl, Desirée Mena-Tudela, Laia Aguilar-Camprubí, Francisco J. Pérez-Cano, Anna Parra-Llorca, Carles Lerin, Cecilia Martínez-Costa and Maria Carmen Collado
    Citation: Genome Medicine 2022 14:42
    Content type: Research Published on:

  48. Genomic alterations in 8 genes are now the targets of FDA-approved therapeutics in non-small cell lung cancer (NSCLC), but their distribution according to genetic ancestry, sex, histology, and smoking is not w...

    Authors: Elio Adib, Amin H. Nassar, Sarah Abou Alaiwi, Stefan Groha, Elie W. Akl, Lynette M. Sholl, Kesi S. Michael, Mark M. Awad, Pasi A. JÓ“nne, Alexander Gusev and David J. Kwiatkowski
    Citation: Genome Medicine 2022 14:39
    Content type: Research Published on:

  49. Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing ...

    Authors: Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel…
    Citation: Genome Medicine 2022 14:38
    Content type: Research Published on:

  50. Carbapenem-resistant Enterobacterales (CRE) are an urgent global health threat. Inferring the dynamics of local CRE dissemination is currently limited by our inability to confidently trace the spread of resistanc...

    Authors: Rauf Salamzade, Abigail L. Manson, Bruce J. Walker, Thea Brennan-Krohn, Colin J. Worby, Peijun Ma, Lorrie L. He, Terrance P. Shea, James Qu, Sinéad B. Chapman, Whitney Howe, Sarah K. Young, Jenna I. Wurster, Mary L. Delaney, Sanjat Kanjilal, Andrew B. Onderdonk…
    Citation: Genome Medicine 2022 14:37
    Content type: Research Published on:
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