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  1. In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetic...

    Authors: Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski…
    Citation: Genome Medicine 2022 14:113
    Content type: Research Published on:

  2. Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in children with African ancestry.

    Authors: Charles Washington III, Matthew Dapas, Arjun Biddanda, Kevin M. Magnaye, Ivy Aneas, Britney A. Helling, Brooke Szczesny, Meher Preethi Boorgula, Margaret A. Taub, Eimear Kenny, Rasika A. Mathias, Kathleen C. Barnes, Gurjit K. Khurana Hershey, Carolyn M. Kercsmar, Jessica D. Gereige, Melanie Makhija…
    Citation: Genome Medicine 2022 14:112
    Content type: Research Published on:

  3. Although anti-apoptotic proteins of the B-cell lymphoma-2 (BCL2) family have been utilized as therapeutic targets in acute myeloid leukaemia (AML), their complicated regulatory networks make individualized the...

    Authors: Chansub Lee, Sungyoung Lee, Eunchae Park, Junshik Hong, Dong-Yeop Shin, Ja Min Byun, Hongseok Yun, Youngil Koh and Sung-Soo Yoon
    Citation: Genome Medicine 2022 14:111
    Content type: Research Published on:

  4. Treatment with tumor necrosis factor α (TNFα) antagonists in IBD patients suffers from primary non-response rates of up to 40%. Biomarkers for early prediction of therapy success are missing. We investigated t...

    Authors: Neha Mishra, Konrad Aden, Johanna I. Blase, Nathan Baran, Dora Bordoni, Florian Tran, Claudio Conrad, Diana Avalos, Charlot Jaeckel, Michael Scherer, Signe B. Sørensen, Silja H. Overgaard, Berenice Schulte, Susanna Nikolaus, Guillaume Rey, Gilles Gasparoni…
    Citation: Genome Medicine 2022 14:110
    Content type: Research Published on:

  5. Primary central nervous system lymphoma (PCNSL) is a rare lymphoma of the central nervous system, usually of diffuse large B cell phenotype. Stereotactic biopsy followed by histopathology is the diagnostic sta...

    Authors: Michael Heming, Svea Haessner, Jolien Wolbert, I-Na Lu, Xiaolin Li, Benjamin Brokinkel, Michael Müther, Markus Holling, Walter Stummer, Christian Thomas, Andreas Schulte-Mecklenbeck, Flavia de Faria, Marlon Stoeckius, Stephan Hailfinger, Georg Lenz, Kornelius Kerl…
    Citation: Genome Medicine 2022 14:109
    Content type: Research Published on:

  6. Emerging RNA viruses that target the central nervous system (CNS) lead to cognitive sequelae in survivors. Studies in humans and mice infected with West Nile virus (WNV), a re-emerging RNA virus associated wit...

    Authors: Sarah F. Rosen, Allison L. Soung, Wei Yang, Shenjian Ai, Marlene Kanmogne, Veronica A. Davé, Maxim Artyomov, Jeffrey A. Magee and Robyn S. Klein
    Citation: Genome Medicine 2022 14:108
    Content type: Research Published on:

  7. 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 14:107
    Content type: Author Correction Published on:

    The original article was published in Genome Medicine 2022 14:52

  9. Renal cell carcinoma (RCC) is a heterogeneous disease comprising histologically defined subtypes. For therapy selection, precise subtype identification and individualized prognosis are mandatory, but currently...

    Authors: Florian A. Büttner, Stefan Winter, Viktoria Stühler, Steffen Rausch, Jörg Hennenlotter, Susanne Füssel, Stefan Zastrow, Matthias Meinhardt, Marieta Toma, Carmen Jerónimo, Rui Henrique, Vera Miranda-Gonçalves, Nils Kröger, Silvia Ribback, Arndt Hartmann, Abbas Agaimy…
    Citation: Genome Medicine 2022 14:105
    Content type: Research Published on:

  10. Large medical centers in urban areas, like Los Angeles, care for a diverse patient population and offer the potential to study the interplay between genetic ancestry and social determinants of health. Here, we...

    Authors: Ruth Johnson, Yi Ding, Vidhya Venkateswaran, Arjun Bhattacharya, Kristin Boulier, Alec Chiu, Sergey Knyazev, Tommer Schwarz, Malika Freund, Lingyu Zhan, Kathryn S. Burch, Christa Caggiano, Brian Hill, Nadav Rakocz, Brunilda Balliu, Christopher T. Denny…
    Citation: Genome Medicine 2022 14:104
    Content type: Research Published on:

  11. Acute kidney injury (AKI) occurs frequently in critically ill patients and is associated with adverse outcomes. Cellular mechanisms underlying AKI and kidney cell responses to injury remain incompletely unders...

    Authors: Christian Hinze, Christine Kocks, Janna Leiz, Nikos Karaiskos, Anastasiya Boltengagen, Shuang Cao, Christopher Mark Skopnik, Jan Klocke, Jan-Hendrik Hardenberg, Helena Stockmann, Inka Gotthardt, Benedikt Obermayer, Laleh Haghverdi, Emanuel Wyler, Markus Landthaler, Sebastian Bachmann…
    Citation: Genome Medicine 2022 14:103
    Content type: Research Published on:

  12. Genomic copy number alterations commonly occur in prostate cancer and are one measure of genomic instability. The clinical implication of copy number change in advanced prostate cancer, which defines a wide sp...

    Authors: Emily Grist, Stefanie Friedrich, Christopher Brawley, Larissa Mendes, Marina Parry, Adnan Ali, Aine Haran, Alex Hoyle, Claire Gilson, Sharanpreet Lall, Leila Zakka, Carla Bautista, Alex Landless, Karolina Nowakowska, Anna Wingate, Daniel Wetterskog…
    Citation: Genome Medicine 2022 14:102
    Content type: Research Published on:

  13. Recent rapid biotechnological breakthroughs have led to the identification of complex and unique molecular features that drive malignancies. Precision medicine has exploited next-generation sequencing and matc...

    Authors: Elena Fountzilas, Apostolia M. Tsimberidou, Henry Hiep Vo and Razelle Kurzrock
    Citation: Genome Medicine 2022 14:101
    Content type: Review Published on:

  14. African ancestry is a significant risk factor for advanced prostate cancer (PCa). Mortality rates in sub-Saharan Africa are 2.5-fold greater than global averages. However, the region has largely been excluded ...

    Authors: Tingting Gong, Weerachai Jaratlerdsiri, Jue Jiang, Cali Willet, Tracy Chew, Sean M. Patrick, Ruth J. Lyons, Anne-Maree Haynes, Gabriela Pasqualim, Ilma Simoni Brum, Phillip D. Stricker, Shingai B. A. Mutambirwa, Rosemarie Sadsad, Anthony T. Papenfuss, Riana M. S. Bornman, Eva K. F. Chan…
    Citation: Genome Medicine 2022 14:100
    Content type: Research Published on:

  15. Central conventional chondrosarcoma (CS) is the most common subtype of primary malignant bone tumour in adults. Treatment options are usually limited to surgery, and prognosis is challenging. These tumours are...

    Authors: William Cross, Iben Lyskjær, Tom Lesluyes, Steven Hargreaves, Anna-Christina Strobl, Christopher Davies, Sara Waise, Shadi Hames-Fathi, Dahmane Oukrif, Hongtao Ye, Fernanda Amary, Roberto Tirabosco, Craig Gerrand, Toby Baker, David Barnes, Christopher Steele…
    Citation: Genome Medicine 2022 14:99
    Content type: Research Published on:

  16. The “HER2-low” nomenclature identifies breast carcinomas (BCs) displaying a HER2 score of 1+/2+ in immunohistochemistry and lacking ERBB2 amplification. Whether HER2-low BCs (HLBCs) constitute a distinct entity i...

    Authors: Enrico Berrino, Laura Annaratone, Sara Erika Bellomo, Giulio Ferrero, Amedeo Gagliardi, Alberto Bragoni, Dora Grassini, Simonetta Guarrera, Caterina Parlato, Laura Casorzo, Mara Panero, Ivana Sarotto, Silvia Giordano, Matteo Cereda, Filippo Montemurro, Riccardo Ponzone…
    Citation: Genome Medicine 2022 14:98
    Content type: Research Published on:

  17. Resistance to third-generation cephalosporins, often mediated by extended-spectrum beta-lactamases (ESBLs), is a considerable issue in hospital-associated infections as few drugs remain for treatment. ESBL gen...

    Authors: Jane Hawkey, Kelly L. Wyres, Louise M. Judd, Taylor Harshegyi, Luke Blakeway, Ryan R. Wick, Adam W. J. Jenney and Kathryn E. Holt
    Citation: Genome Medicine 2022 14:97
    Content type: Research Published on:

  18. Multidrug-resistant (MDR) Mycobacterium tuberculosis complex (MTBC) strains are a serious health problem in India, also contributing to one-fourth of the global MDR tuberculosis (TB) burden. About 36% of the MDR ...

    Authors: Viola Dreyer, Ayan Mandal, Prachi Dev, Matthias Merker, Ivan Barilar, Christian Utpatel, Kayzad Nilgiriwala, Camilla Rodrigues, Derrick W. Crook, Jean-Philippe Rasigade, Thierry Wirth, Nerges Mistry and Stefan Niemann
    Citation: Genome Medicine 2022 14:95
    Content type: Research Published on:

  19. Since the start of the coronavirus disease 2019 (COVID-19) pandemic, important insights have been gained into virus biology and the host factors that modulate the human immune response against severe acute res...

    Authors: Caspar I. van der Made, Mihai G. Netea, Frank L. van der Veerdonk and Alexander Hoischen
    Citation: Genome Medicine 2022 14:96
    Content type: Review Published on:

  20. The cerebrospinal fluid (CSF) features a unique immune cell composition and is in constant contact with the brain borders, thus permitting insights into the brain to diagnose and monitor diseases. Recently, th...

    Authors: Michael Heming, Anna-Lena Börsch, Heinz Wiendl and Gerd Meyer zu Hörste
    Citation: Genome Medicine 2022 14:94
    Content type: Review Published on:

  21. Colorectal cancer (CRC) ranks as the second-leading cause of cancer-related death worldwide with metastases being the main cause of cancer-related death. Here, we investigated the genomic and transcriptomic al...

    Authors: Rui Wang, Jingyun Li, Xin Zhou, Yunuo Mao, Wendong Wang, Shuai Gao, Wei Wang, Yuan Gao, Kexuan Chen, Shuntai Yu, Xinglong Wu, Lu Wen, Hao Ge, Wei Fu and Fuchou Tang
    Citation: Genome Medicine 2022 14:93
    Content type: Research Published on:

  22. Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary c...

    Authors: Ozge Ceyhan-Birsoy, Gowtham Jayakumaran, Yelena Kemel, Maksym Misyura, Umut Aypar, Sowmya Jairam, Ciyu Yang, Yirong Li, Nikita Mehta, Anna Maio, Angela Arnold, Erin Salo-Mullen, Margaret Sheehan, Aijazuddin Syed, Michael Walsh, Maria Carlo…
    Citation: Genome Medicine 2022 14:92
    Content type: Research Published on:

  23. Crohn’s disease (CD) patients demonstrate distinct intestinal microbial compositions and metabolic characteristics compared to unaffected controls. However, the impact of inflammation and underlying genetic ri...

    Authors: Jonathan P. Jacobs, Maryam Goudarzi, Venu Lagishetty, Dalin Li, Tytus Mak, Maomeng Tong, Paul Ruegger, Talin Haritunians, Carol Landers, Philip Fleshner, Eric Vasiliauskas, Andrew Ippoliti, Gil Melmed, David Shih, Stephan Targan, James Borneman…
    Citation: Genome Medicine 2022 14:91
    Content type: Research Published on:

  24. Lung cancer, one of the most common malignant tumors, exhibits high inter- and intra-tumor heterogeneity which contributes significantly to treatment resistance and failure. Single-cell RNA sequencing (scRNA-s...

    Authors: Qingqing Li, Rui Wang, Zhenlin Yang, Wen Li, Jingwei Yang, Zhijie Wang, Hua Bai, Yueli Cui, Yanhua Tian, Zixin Wu, Yuqing Guo, Jiachen Xu, Lu Wen, Jie He, Fuchou Tang and Jie Wang
    Citation: Genome Medicine 2022 14:87
    Content type: Research Published on:

  25. Genomic surveillance of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the only approach to rapidly monitor and tackle emerging variants of concern (VOC) of the COVID-19 pandemic. Such scrutin...

    Authors: Antonio Grimaldi, Francesco Panariello, Patrizia Annunziata, Teresa Giuliano, Michela Daniele, Biancamaria Pierri, Chiara Colantuono, Marcello Salvi, Valentina Bouché, Anna Manfredi, Maria Concetta Cuomo, Denise Di Concilio, Claudia Tiberio, Mariano Fiorenza, Giuseppe Portella, Ilaria Cimmino…
    Citation: Genome Medicine 2022 14:90
    Content type: Research Published on:

  26. The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic effects. Neverthele...

    Authors: Eleonora Porcu, Annique Claringbould, Antoine Weihs, Kaido Lepik, Tom G. Richardson, Uwe Völker, Federico A. Santoni, Alexander Teumer, Lude Franke, Alexandre Reymond and Zoltán Kutalik
    Citation: Genome Medicine 2022 14:89
    Content type: Research Published on:

  27. 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:

  28. 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:

  29. Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently develo...

    Authors: Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu…
    Citation: Genome Medicine 2022 14:84
    Content type: Software Published on:

  30. 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:

  31. 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

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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

  39. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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

  46. 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:

  47. 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:

  48. 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:

  50. 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

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