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  2. 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:

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  15. 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:

  16. 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:

  17. 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:

  18. 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:

  19. 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:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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 Jąkalski, Paweł Olszewski, Jakub O. Westholm, Agata Smialowska, Karol Wierzba, Åsa Torinsson Naluai, Niklas Jern, Lars-Magnus Andersson, Josef D. Järhult…
    Citation: Genome Medicine 2022 14:139
    Content type: Research Published on:

  28. 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:

  29. 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:

  31. The rapid advancement of single-cell transcriptomics in neurology has allowed for profiling of post-mortem human brain tissue across multiple diseases. Over the past 3 years, several studies have examined tiss...

    Authors: Tain Luquez, Pallavi Gaur, Ivy M Kosater, Matti Lam, Dylan I Lee, Jason Mares, Fahad Paryani, Archana Yadav and Vilas Menon
    Citation: Genome Medicine 2022 14:136
    Content type: Review Published on:

  32. COVID-19 manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic and mild to severe and critical. Severe and critical COVID-19 patients are characterized by marked changes in the myelo...

    Authors: Gerard Godoy-Tena, Anis Barmada, Octavio Morante-Palacios, Carlos de la Calle-Fabregat, Ricardo Martins-Ferreira, Anna G. Ferreté-Bonastre, Laura Ciudad, Adolfo Ruiz-Sanmartín, Mónica Martínez-Gallo, Ricard Ferrer, Juan Carlos Ruiz-Rodriguez, Javier Rodríguez-Ubreva, Roser Vento-Tormo and Esteban Ballestar
    Citation: Genome Medicine 2022 14:134
    Content type: Research Published on:

  33. As circulating DNA (cirDNA) is mainly detected as mononucleosome-associated circulating DNA (mono-N cirDNA) in blood, apoptosis has until now been considered as the main source of cirDNA. The mechanism of cirD...

    Authors: Ekaterina Pisareva, Lucia Mihalovičová, Brice Pastor, Andrei Kudriavtsev, Alexia Mirandola, Thibault Mazard, Stephanie Badiou, Ulrich Maus, Lena Ostermann, Julia Weinmann-Menke, Elmo W. I. Neuberger, Perikles Simon and Alain R. Thierry
    Citation: Genome Medicine 2022 14:135
    Content type: Research Published on:

  34. Neuropsychiatric disorders afflict a large portion of the global population and constitute a significant source of disability worldwide. Although Genome-wide Association Studies (GWAS) have identified many dis...

    Authors: Shuang Liu, Hyejung Won, Declan Clarke, Nana Matoba, Saniya Khullar, Yudi Mu, Daifeng Wang and Mark Gerstein
    Citation: Genome Medicine 2022 14:133
    Content type: Research Published on:

  35. Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentration...

    Authors: Niina Sandholm, Ronja Hotakainen, Jani K. Haukka, Fanny Jansson Sigfrids, Emma H. Dahlström, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Valma Harjutsalo, Carol Forsblom and Per-Henrik Groop
    Citation: Genome Medicine 2022 14:132
    Content type: Research Published on:

  36. The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College ...

    Authors: Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally and Anna C. E. Hurst
    Citation: Genome Medicine 2022 14:131
    Content type: Research Published on:

  37. Squamous cell carcinoma (SqCC) is a subtype of non-small cell lung cancer for which patient prognosis remains poor. The extracellular matrix (ECM) is critical in regulating cell behavior; however, its importan...

    Authors: Amelia L. Parker, Elise Bowman, Adriana Zingone, Brid M. Ryan, Wendy A. Cooper, Maija Kohonen-Corish, Curtis C. Harris and Thomas R. Cox
    Citation: Genome Medicine 2022 14:126
    Content type: Research Published on:

  39. There is large individual variation in both clinical presentation and progression between Parkinson’s disease patients. Generation of deeply and longitudinally phenotyped patient cohorts has enormous potential...

    Authors: Cynthia Sandor, Stephanie Millin, Andrew Dahl, Ann-Kathrin Schalkamp, Michael Lawton, Leon Hubbard, Nabila Rahman, Nigel Williams, Yoav Ben-Shlomo, Donald G. Grosset, Michele T. Hu, Jonathan Marchini and Caleb Webber
    Citation: Genome Medicine 2022 14:129
    Content type: Research Published on:

  40. 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 14:128
    Content type: Author Correction Published on:

    The original article was published in Genome Medicine 2022 14:104

  41. Diffuse pleural mesothelioma (DPM) is an aggressive malignancy that, despite recent treatment advances, has unacceptably poor outcomes. Therapeutic research in DPM is inhibited by a paucity of preclinical mode...

    Authors: Michael Offin, Jennifer L. Sauter, Sam E. Tischfield, Jacklynn V. Egger, Shweta Chavan, Nisargbhai S. Shah, Parvathy Manoj, Katia Ventura, Viola Allaj, Elisa de Stanchina, William Travis, Marc Ladanyi, Andreas Rimner, Valerie W. Rusch, Prasad S. Adusumilli, John T. Poirier…
    Citation: Genome Medicine 2022 14:127
    Content type: Research Published on:

  42. Molecular measurements of the genome, the transcriptome, and the epigenome, often termed multi-omics data, provide an in-depth view on biological systems and their integration is crucial for gaining insights i...

    Authors: Johann S. Hawe, Ashis Saha, Melanie Waldenberger, Sonja Kunze, Simone Wahl, Martina Müller-Nurasyid, Holger Prokisch, Harald Grallert, Christian Herder, Annette Peters, Konstantin Strauch, Fabian J. Theis, Christian Gieger, John Chambers, Alexis Battle and Matthias Heinig
    Citation: Genome Medicine 2022 14:125
    Content type: Research Published on:

  43. Ganciclovir (GCV) is widely used in solid organ and haematopoietic stem cell transplant patients for prophylaxis and treatment of cytomegalovirus. It has long been considered a mutagen and carcinogen. However,...

    Authors: Hu Fang, Helen H. N. Yan, Rebecca A. Bilardi, Christoffer Flensburg, Haocheng Yang, Jayne A. Barbour, Hoi Cheong Siu, Michelle Turski, Edward Chew, Zhen Xu, Siu T. Lam, Rakesh Sharma, Mengya Xu, Junshi Li, Ho W. Ip, Carol Y. M. Cheung…
    Citation: Genome Medicine 2022 14:124
    Content type: Research Published on:

  44. Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our e...

    Authors: Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li…
    Citation: Genome Medicine 2022 14:123
    Content type: Research Published on:

  45. The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is ...

    Authors: Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington…
    Citation: Genome Medicine 2022 14:122
    Content type: Research Published on:

  46. Cancer recurrence after tumor resection in early-stage non-small cell lung cancer (NSCLC) is common, yet difficult to predict. The lung microbiota and systemic immunity may be important modulators of risk for ...

    Authors: Brandilyn A. Peters, Harvey I. Pass, Robert D. Burk, Xiaonan Xue, Chandra Goparaju, Christopher C. Sollecito, Evan Grassi, Leopoldo N. Segal, Jun-Chieh J. Tsay, Richard B. Hayes and Jiyoung Ahn
    Citation: Genome Medicine 2022 14:121
    Content type: Research Published on:

  47. Drug resistance continues to be a major limiting factor across diverse anti-cancer therapies. Contributing to the complexity of this challenge is cancer plasticity, in which one cancer subtype switches to anot...

    Authors: Heba Alkhatib, Ariel M. Rubinstein, Swetha Vasudevan, Efrat Flashner-Abramson, Shira Stefansky, Sangita Roy Chowdhury, Solomon Oguche, Tamar Peretz-Yablonsky, Avital Granit, Zvi Granot, Ittai Ben-Porath, Kim Sheva, Jon Feldman, Noa E. Cohen, Amichay Meirovitz and Nataly Kravchenko-Balasha
    Citation: Genome Medicine 2022 14:120
    Content type: Research Published on:

  48. Cervical screening is transitioning from primary cytology to primary human papillomavirus (HPV) testing. HPV testing is highly sensitive but there is currently no high-specificity triage method for colposcopy ...

    Authors: James E. Barrett, Karin Sundström, Allison Jones, Iona Evans, Jiangrong Wang, Chiara Herzog, Joakim Dillner and Martin Widschwendter
    Citation: Genome Medicine 2022 14:116
    Content type: Research Published on:

  49. The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associa...

    Authors: Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B. Van den Veyver, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, Robert E. Braun…
    Citation: Genome Medicine 2022 14:119
    Content type: Research Published on:

  50. Pathway enrichment analysis (PEA) is a common method for exploring functions of hundreds of genes and identifying disease-risk pathways. Moreover, different pathways exert their functions through crosstalk. Ho...

    Authors: Haizhou Liu, Mengqin Yuan, Ramkrishna Mitra, Xu Zhou, Min Long, Wanyue Lei, Shunheng Zhou, Yu-e Huang, Fei Hou, Christine M. Eischen and Wei Jiang
    Citation: Genome Medicine 2022 14:118
    Content type: Research Published on:
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