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  1. In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns...

    Authors: Hui Xiao, Huiyao Chen, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Yun Cao, Liyuan Hu, Xinran Dong, Wenhao Zhou and Lin Yang
    Citation: Genome Medicine 2023 15:112
  2. Clonal hematopoiesis (CH) frequently progresses after chemotherapy or radiotherapy. We evaluated the clinical impact of preoperative CH on the survival outcomes of patients with non-small cell lung cancer (NSC...

    Authors: Jae Kwang Yun, Sugyeong Kim, Hongyul An, Geun Dong Lee, Hyeong Ryul Kim, Yong-Hee Kim, Dong Kwan Kim, Seung-Il Park, Sehoon Choi and Youngil Koh
    Citation: Genome Medicine 2023 15:111
  3. Damage in the ischemic core and penumbra after stroke affects patient prognosis. Microglia immediately respond to ischemic insult and initiate immune inflammation, playing an important role in the cellular inj...

    Authors: Huiya Li, Pinyi Liu, Bing Zhang, Zengqiang Yuan, Mengdi Guo, Xinxin Zou, Yi Qian, Shiji Deng, Liwen Zhu, Xiang Cao, Tao Tao, Shengnan Xia, Xinyu Bao and Yun Xu
    Citation: Genome Medicine 2023 15:109
  4. Normal cell BRCA1 epimutations have been associated with increased risk of triple-negative breast cancer (TNBC). However, the fraction of TNBCs that may have BRCA1 epimutations as their underlying cause is unknow...

    Authors: Oleksii Nikolaienko, Hans P. Eikesdal, Elisabet Ognedal, Bjørnar Gilje, Steinar Lundgren, Egil S. Blix, Helge Espelid, Jürgen Geisler, Stephanie Geisler, Emiel A. M. Janssen, Synnøve Yndestad, Laura Minsaas, Beryl Leirvaag, Reidun Lillestøl, Stian Knappskog and Per E. Lønning
    Citation: Genome Medicine 2023 15:104
  5. In vitro and in vivo studies have shown that certain cytokines and hormones may play a role in the development and progression of type 2 diabetes (T2D). However, studies on their role in T2D in humans are scar...

    Authors: Karlijn A. C. Meeks, Amy R. Bentley, Themistocles L. Assimes, Nora Franceschini, Adebowale A. Adeyemo, Charles N. Rotimi and Ayo P. Doumatey
    Citation: Genome Medicine 2023 15:108
  6. Klebsiella pneumoniae is a notorious clinical pathogen and frequently carries various plasmids, which are the main carriers of antimicrobial resistance and virulence genes. In comparison to self-transmissible co...

    Authors: Jianfeng Zhang, Yanping Xu, Meng Wang, Xiaobin Li, Zhiyuan Liu, Dai Kuang, Zixin Deng, Hong-Yu Ou and Jieming Qu
    Citation: Genome Medicine 2023 15:106
  7. The precise characterization of individual tumors and immune microenvironments using transcriptome sequencing has provided a great opportunity for successful personalized cancer treatment. However, the cancer ...

    Authors: Chen Tang, Shaliu Fu, Xuan Jin, Wannian Li, Feiyang Xing, Bin Duan, Xiaojie Cheng, Xiaohan Chen, Shuguang Wang, Chenyu Zhu, Gaoyang Li, Guohui Chuai, Yayi He, Ping Wang and Qi Liu
    Citation: Genome Medicine 2023 15:105
  8. Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lead to diminished protein function. Experimental approaches for identifying GOF and LOF a...

    Authors: David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger and Yuval Itan
    Citation: Genome Medicine 2023 15:103
  9. Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this...

    Authors: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen…
    Citation: Genome Medicine 2023 15:102
  10. Understanding the mechanistic effects of novel immunotherapy agents is critical to improving their successful clinical translation. These effects need to be studied in preclinical models that maintain the hete...

    Authors: Anuja Sathe, Carlos Ayala, Xiangqi Bai, Susan M. Grimes, Byrne Lee, Cindy Kin, Andrew Shelton, George Poultsides and Hanlee P. Ji
    Citation: Genome Medicine 2023 15:100
  11. Arabs represent 5% of the world population and have a high prevalence of common disease, yet remain greatly underrepresented in genome-wide association studies, where only 1 in 600 individuals are Arab. We hig...

    Authors: Romit Bhattacharya, NingNing Chen, Injeong Shim, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya and Akl C. Fahed
    Citation: Genome Medicine 2023 15:99
  12. The prognosis for patients with head and neck cancer (HNC) is poor and has improved little in recent decades, partially due to lack of therapeutic options. To identify effective therapeutic targets, we sought ...

    Authors: Kevin Brennan, Almudena Espín-Pérez, Serena Chang, Nikita Bedi, Saumyaa Saumyaa, June Ho Shin, Sylvia K. Plevritis, Olivier Gevaert, John B. Sunwoo and Andrew J. Gentles
    Citation: Genome Medicine 2023 15:98
  13. Identification of rare variants involved in complex, polygenic diseases like Crohn’s disease (CD) has accelerated with the introduction of whole exome/genome sequencing association studies. Rare variants can b...

    Authors: Courtney Astore, Shivam Sharma, Sini Nagpal, David J. Cutler, John D. Rioux, Judy H. Cho, Dermot P. B. McGovern, Steven R. Brant, Subra Kugathasan, I. King Jordan and Greg Gibson
    Citation: Genome Medicine 2023 15:97
  14. Malaria continues to be a major threat to global public health. Whole genome sequencing (WGS) of the underlying Plasmodium parasites has provided insights into the genomic epidemiology of malaria. Genome sequenci...

    Authors: Jody E. Phelan, Anna Turkiewicz, Emilia Manko, Joseph Thorpe, Leen N. Vanheer, Marga van de Vegte-Bolmer, Nguyen Thi Hong Ngoc, Nguyen Thi Huong Binh, Nguyen Quang Thieu, Jesse Gitaka, Debbie Nolder, Khalid B. Beshir, Jamille G. Dombrowski, Silvia Maria Di Santi, Teun Bousema, Colin J. Sutherland…
    Citation: Genome Medicine 2023 15:96
  15. Chronic limb-threatening ischemia (CLTI), a severe manifestation of peripheral arterial disease (PAD), is associated with a 1-year limb amputation rate of approximately 15–20% and substantial mortality. A key ...

    Authors: Kevin W. Southerland, Yueyuan Xu, Derek T. Peters, Xin Lin, Xiaolin Wei, Yu Xiang, Kaileen Fei, Lindsey A. Olivere, Jeremy M. Morowitz, James Otto, Qunsheng Dai, Christopher D. Kontos and Yarui Diao
    Citation: Genome Medicine 2023 15:95
  16. Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are of...

    Authors: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange…
    Citation: Genome Medicine 2023 15:94
  17. Early detection of hepatocellular carcinoma (HCC) is important in order to improve patient prognosis and survival rate. Methylation sequencing combined with neural networks to identify cell-free DNA (cfDNA) ca...

    Authors: Zhenzhong Deng, Yongkun Ji, Bing Han, Zhongming Tan, Yuqi Ren, Jinghan Gao, Nan Chen, Cong Ma, Yichi Zhang, Yunhai Yao, Hong Lu, Heqing Huang, Midie Xu, Lei Chen, Leizhen Zheng, Jianchun Gu…
    Citation: Genome Medicine 2023 15:93
  18. Biorepositories archive and distribute well-characterized biospecimens for research to support the development of medical diagnostics and therapeutics. Knowledge of biobanking and associated practices is incom...

    Authors: Talishiea Croxton, Emmanuel Jonathan, Kareemah Suleiman, Olasinbo Balogun, Petronilla J. Ozumba, Sharley M. Aloyo, Gideon Nsubuga, Rogers E. Kamulegeya, Lwanga Newton, John Mukisa, Mukthar Kader, Vuyo Damaneite, Sunji Nadoma, Ezenwa James Onyemata, Abbas Abel Anzaku, Emmanuel Nasinghe…
    Citation: Genome Medicine 2023 15:92
  19. The advancement of single-cell sequencing has progressed our ability to solve biological questions. Cell type annotation is of vital importance to this process, allowing for the analysis and interpretation of ...

    Authors: Fei Quan, Xin Liang, Mingjiang Cheng, Huan Yang, Kun Liu, Shengyuan He, Shangqin Sun, Menglan Deng, Yanzhen He, Wei Liu, Shuai Wang, Shuxiang Zhao, Lantian Deng, Xiaobo Hou, Xinxin Zhang and Yun Xiao
    Citation: Genome Medicine 2023 15:91
  20. Genotypes are strongly associated with disease phenotypes, particularly in brain disorders. However, the molecular and cellular mechanisms behind this association remain elusive. With emerging multimodal data ...

    Authors: Pramod Bharadwaj Chandrashekar, Sayali Alatkar, Jiebiao Wang, Gabriel E. Hoffman, Chenfeng He, Ting Jin, Saniya Khullar, Jaroslav Bendl, John F. Fullard, Panos Roussos and Daifeng Wang
    Citation: Genome Medicine 2023 15:88
  21. Urinary tract infections (UTIs) are among the most common bacterial infections worldwide, often caused by uropathogenic Escherichia coli. Multiple bacterial virulence factors or patient characteristics have been ...

    Authors: Aline Cuénod, Jessica Agnetti, Helena M. B. Seth-Smith, Tim Roloff, Denise Wälchli, Dimitri Shcherbakov, Rashid Akbergenov, Sarah Tschudin-Sutter, Stefano Bassetti, Martin Siegemund, Christian H. Nickel, Jacob Moran-Gilad, Timothy G. Keys, Valentin Pflüger, Nicholas R. Thomson and Adrian Egli
    Citation: Genome Medicine 2023 15:89
  22. Early identification of genetic risk factors for complex diseases can enable timely interventions and prevent serious outcomes, including mortality. While the genetics underlying many Mendelian diseases have b...

    Authors: Segun Fatumo, Dassen Sathan, Chaimae Samtal, Itunuoluwa Isewon, Tsaone Tamuhla, Chisom Soremekun, James Jafali, Sumir Panji, Nicki Tiffin and Yasmina Jaufeerally Fakim
    Citation: Genome Medicine 2023 15:87
  23. As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately ...

    Authors: Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens…
    Citation: Genome Medicine 2023 15:86
  24. Germline variants affecting the proofreading activity of polymerases epsilon and delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by tumors with a high mutational burden and a s...

    Authors: Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló and Laura Valle
    Citation: Genome Medicine 2023 15:85
  25. Systemic lupus erythematosus (SLE) is known to be clinically heterogeneous. Previous efforts to characterize subsets of SLE patients based on gene expression analysis have not been reproduced because of small ...

    Authors: Erika L. Hubbard, Prathyusha Bachali, Kathryn M. Kingsmore, Yisha He, Michelle D. Catalina, Amrie C. Grammer and Peter E. Lipsky
    Citation: Genome Medicine 2023 15:84

    The Publisher Correction to this article has been published in Genome Medicine 2023 15:113

  26. Mixed phenotype acute leukemia (MPAL), a rare subgroup of leukemia characterized by blast cells with myeloid and lymphoid lineage features, is difficult to diagnose and treat. A better characterization of MPAL...

    Authors: Hope L. Mumme, Sunil S. Raikar, Swati S. Bhasin, Beena E. Thomas, Taylor Lawrence, Elizabeth P. Weinzierl, Yakun Pang, Deborah DeRyckere, Chuck Gawad, Daniel S. Wechsler, Christopher C. Porter, Sharon M. Castellino, Douglas K. Graham and Manoj Bhasin
    Citation: Genome Medicine 2023 15:83
  27. Prostate cancer (PrCa) genomic heterogeneity causes resistance to therapies such as androgen deprivation. Such heterogeneity can be deciphered in the context of evolutionary principles, but current clinical tr...

    Authors: Anssi Nurminen, Serafiina Jaatinen, Sinja Taavitsainen, Gunilla Högnäs, Tom Lesluyes, Naser Ansari-Pour, Teemu Tolonen, Kerstin Haase, Antti Koskenalho, Matti Kankainen, Juho Jasu, Hanna Rauhala, Jenni Kesäniemi, Tiia Nikupaavola, Paula Kujala, Irina Rinta-Kiikka…
    Citation: Genome Medicine 2023 15:82
  28. Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children ...

    Authors: Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein…
    Citation: Genome Medicine 2023 15:81
  29. Primary liver cancer has significant intratumor genetic heterogeneity (IGH), which drives cancer evolution and prevents effective cancer treatment. CRISPR/Cas9-induced mouse liver cancer models can be used to ...

    Authors: Tao Guo, Guo-Qiao Chen, Xu-Fan Li, Meng Wang, Kun-Ming Liu, Xiao-Ying Yang, Si-Cheng Liu, Yi-Li Feng, Peng-Yuan Liu, Hui Lin and An-Yong Xie
    Citation: Genome Medicine 2023 15:80
  30. Genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF) biomarkers may aid in gene discovery and we previously d...

    Authors: Alexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle J. Bos, Jigyasha Timsina, Stephanie Vos, Dmitry Prokopenko, Betty M. Tijms, Ulf Andreasson, Kaj Blennow, Rik Vandenberghe, Philip Scheltens, Charlotte E. Teunissen, Sebastiaan Engelborghs, Giovanni B. Frisoni, Oliver Blin…
    Citation: Genome Medicine 2023 15:79
  31. The high incidence of aneuploidy in early human development, arising either from errors in meiosis or postzygotic mitosis, is the primary cause of pregnancy loss, miscarriage, and stillbirth following natural ...

    Authors: Rajiv C. McCoy, Michael C. Summers, Abeo McCollin, Christian S. Ottolini, Kamal Ahuja and Alan H. Handyside
    Citation: Genome Medicine 2023 15:77
  32. Alternative splicing complexity plays a vital role in carcinogenesis and cancer progression. Improved understanding of novel splicing events and the underlying regulatory mechanisms may contribute new insights...

    Authors: Qiang Sun, Ye Han, Jianxing He, Jie Wang, Xuejie Ma, Qianqian Ning, Qing Zhao, Qian Jin, Lili Yang, Shuang Li, Yang Li, Qiaoming Zhi, Junnian Zheng and Dong Dong
    Citation: Genome Medicine 2023 15:76
  33. Systemic and local profiles have each been associated with asthma, but parsing causal relationships between system-wide and airway-specific processes can be challenging. We sought to investigate systemic and a...

    Authors: Lingdi Zhang, Yoojin Chun, Haritz Irizar, Zoe Arditi, Galina Grishina, Alexander Grishin, Alfin Vicencio and Supinda Bunyavanich
    Citation: Genome Medicine 2023 15:71
  34. The proteome is a major source of therapeutic targets. We conducted a proteome-wide Mendelian randomization (MR) study to identify candidate protein markers and therapeutic targets for colorectal cancer (CRC).

    Authors: Jing Sun, Jianhui Zhao, Fangyuan Jiang, Lijuan Wang, Qian Xiao, Fengyan Han, Jie Chen, Shuai Yuan, Jingsun Wei, Susanna C. Larsson, Honghe Zhang, Malcolm G Dunlop, Susan M Farrington, Kefeng Ding, Evropi Theodoratou and Xue Li
    Citation: Genome Medicine 2023 15:75
  35. Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes an...

    Authors: Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed…
    Citation: Genome Medicine 2023 15:74
  36. Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases h...

    Authors: Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F. Ernst, Dennis Dooijes, Hanneke W. M. van Deutekom, J. Peter van Tintelen, Christian J. B. Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W. Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber…
    Citation: Genome Medicine 2023 15:73
  37. Novel immunotherapy combination therapies have improved outcomes for patients with hepatocellular carcinoma (HCC), but responses are limited to a subset of patients. Little is known about the inter- and intra-...

    Authors: Shuming Zhang, Long Yuan, Ludmila Danilova, Guanglan Mo, Qingfeng Zhu, Atul Deshpande, Alexander T. F. Bell, Jennifer Elisseeff, Aleksander S. Popel, Robert A. Anders, Elizabeth M. Jaffee, Mark Yarchoan, Elana J. Fertig and Luciane T. Kagohara
    Citation: Genome Medicine 2023 15:72
  38. T-cells play a crucial role in the adaptive immune system by triggering responses against cancer cells and pathogens, while maintaining tolerance against self-antigens, which has sparked interest in the develo...

    Authors: Chloe H. Lee, Jaesung Huh, Paul R. Buckley, Myeongjun Jang, Mariana Pereira Pinho, Ricardo A. Fernandes, Agne Antanaviciute, Alison Simmons and Hashem Koohy
    Citation: Genome Medicine 2023 15:70
  39. The immune response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in COVID-19 patients has been extensively investigated. However, much less is known about the long-term effects of ...

    Authors: Jia-Yuan Zhang, Justin P. Whalley, Julian C. Knight, Linda S. Wicker, John A. Todd and Ricardo C. Ferreira
    Citation: Genome Medicine 2023 15:69
  40. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algori...

    Authors: Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila…
    Citation: Genome Medicine 2023 15:68
  41. Cancer immunotherapies including immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR) T-cell therapy have shown variable response rates in paediatric patients highlighting the need to establish rob...

    Authors: Arash Nabbi, Pengbo Beck, Alberto Delaidelli, Derek A. Oldridge, Sumedha Sudhaman, Kelsey Zhu, S. Y. Cindy Yang, David T. Mulder, Jeffrey P. Bruce, Joseph N. Paulson, Pichai Raman, Yuankun Zhu, Adam C. Resnick, Poul H. Sorensen, Martin Sill, Sebastian Brabetz…
    Citation: Genome Medicine 2023 15:67
  42. Human bone marrow stromal cells (BMSCs) are an easily accessible and expandable progenitor population with the capacity to generate neural cell types in addition to mesoderm. Lineage tracing studies in transge...

    Authors: Zhang Changmeng, Wang Hongfei, Martin Chi-Hang Cheung, Ying-Shing Chan and Graham Ka-Hon Shea
    Citation: Genome Medicine 2023 15:66
  43. Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and have traditionally been underrepresented in cancer genomics studies. The contribution of...

    Authors: Mohammed Al-Jumaan, Hoyin Chu, Abdullah Alsulaiman, Sabrina Y. Camp, Seunghun Han, Riaz Gillani, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Al Nemer, Afnan Almuhanna, Eliezer M. Van Allen, Amein Al-Ali and Saud H. AlDubayan
    Citation: Genome Medicine 2023 15:65
  44. Viral acute respiratory illnesses (viral ARIs) contribute significantly to human morbidity and mortality worldwide, but their successful treatment requires timely diagnosis of viral etiology, which is complica...

    Authors: Rushika Pandya, Yudong D. He, Timothy E. Sweeney, Yehudit Hasin-Brumshtein and Purvesh Khatri
    Citation: Genome Medicine 2023 15:64
  45. Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homolog...

    Authors: Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg…
    Citation: Genome Medicine 2023 15:62
  46. Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence and functional region preferences. As a resu...

    Authors: Gustav Alexander Poulsgaard, Simon Grund Sørensen, Randi Istrup Juul, Morten Muhlig Nielsen and Jakob Skou Pedersen
    Citation: Genome Medicine 2023 15:63

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