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  1. Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim ...

    Authors: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao and Jian-Min Chen
    Citation: Human Genomics 2024 18:21
  2. De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of D...

    Authors: Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper and Luísa Azevedo
    Citation: Human Genomics 2024 18:20
  3. The causal relationships between plasma metabolites and cholelithiasis/cholecystitis risks remain elusive. Using two-sample Mendelian randomization, we found that genetic proxied plasma campesterol level showe...

    Authors: Jiarui Mi, Qingwei Jiang, Zhengwei Qi, Zhengye Liu, Xiaoyin Bai, Xia Zheng, Jiaguo Wu, Yanfei Fang, Aiming Yang and Haotian Chen
    Citation: Human Genomics 2024 18:19
  4. Infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19) has a high incidence of spread. On January 30, 2020, the World Health Organization proc...

    Authors: Shymaa E. Ayoub, Olfat G. Shaker, Mohamed Masoud, Essam A. Hassan, Eman M. Ezzat, Mona I. Ahmed, Randa I. Ahmed, Amal A. Ibrahim Amin, Fadwa Abd El Reheem, Abeer A. Khalefa and Rania H. Mahmoud
    Citation: Human Genomics 2024 18:18
  5. Authors: Renuka Harit, Sajal De, Piyoosh Kumar Singh, Deepika Kashyap, Manish Kumar, Dibakar Sahu, Chander Prakash Yadav, Mradul Mohan, Vineeta Singh, Ram Singh Tomar, Kailash C. Pandey and Kapil Vashisht
    Citation: Human Genomics 2024 18:17

    The original article was published in Human Genomics 2024 18:7

  6. Diabetes is a spectrum of metabolic diseases affecting millions of people worldwide. The loss of pancreatic β-cell mass by either autoimmune destruction or apoptosis, in type 1-diabetes (T1D) and type 2-diabet...

    Authors: M. I. Farrim, A. Gomes, D. Milenkovic and R. Menezes
    Citation: Human Genomics 2024 18:16
  7. It is valuable to analyze the genome-wide association studies (GWAS) data for a complex disease phenotype in the context of the protein–protein interaction (PPI) network, as the related pathophysiology results...

    Authors: Evridiki-Pandora G. Tsare, Maria I. Klapa and Nicholas K. Moschonas
    Citation: Human Genomics 2024 18:15
  8. Periodic bioinformatics-based screening of wastewater for assessing the diversity of potential human viral pathogens circulating in a given community may help to identify novel or potentially emerging infectio...

    Authors: Yabing Li, Brijen Miyani, Russell A. Faust, Randy E. David and Irene Xagoraraki
    Citation: Human Genomics 2024 18:14
  9. Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcin...

    Authors: Pelin Ünal, Ye Lu, Bas Bueno-de-Mesquita, Casper H. J. van Eijck, Renata Talar-Wojnarowska, Andrea Szentesi, Maria Gazouli, Edita Kreivenaite, Francesca Tavano, Ewa Małecka-Wojciesko, Bálint Erőss, Martin Oliverius, Stefania Bunduc, Mateus Nóbrega Aoki, Ludmila Vodickova, Ugo Boggi…
    Citation: Human Genomics 2024 18:12
  10. Individual assessment of CYP enzyme activities can be challenging. Recently, the potato alkaloid solanidine was suggested as a biomarker for CYP2D6 activity. Here, we aimed to characterize the sensitivity and ...

    Authors: Johanna I. Kiiski, Mikko Neuvonen, Mika Kurkela, Päivi Hirvensalo, Kreetta Hämäläinen, E. Katriina Tarkiainen, Johanna Sistonen, Mari Korhonen, Sofia Khan, Arto Orpana, Anne M. Filppula, Marko Lehtonen and Mikko Niemi
    Citation: Human Genomics 2024 18:11
  11. Human viruses released into the environment can be detected and characterized in wastewater. The study of wastewater virome offers a consolidated perspective on the circulation of viruses within a population. ...

    Authors: Cristina Mejías-Molina, Anna Pico-Tomàs, Sandra Martínez-Puchol, Marta Itarte, Helena Torrell, Núria Canela, Carles M. Borrego, Lluís Corominas, Marta Rusiñol and Sílvia Bofill-Mas
    Citation: Human Genomics 2024 18:10
  12. Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwe...

    Authors: Xue Zhang, Qian Chen, Junnan Li, Xin Luo, Jianyun Luo, Jian Li, Ziye Zeng, Yan Wu, Hua Zhang and Yanling Dong
    Citation: Human Genomics 2024 18:9
  13. Community pharmacists must be well-equipped to advance pharmacogenomics services. Nevertheless, limited data is available regarding pharmacists' knowledge and attitudes toward pharmacogenomics testing. The pre...

    Authors: Azza Ramadan, Anan S. Jarab and Ahmad Z. Al Meslamani
    Citation: Human Genomics 2024 18:8
  14. The present study investigated two single nucleotide polymorphisms (SNPs)—rs479200 and rs516651 in the host EGLN1/PHD2 gene for their association with COVID-19 severity. A retrospective cohort of 158 COVID-19 pat...

    Authors: Renuka Harit, Sajal De, Piyoosh Kumar Singh, Deepika Kashyap, Manish Kumar, Dibakar Sahu, Chander Prakash Yadav, Mradul Mohan, Vineeta Singh, Ram Singh Tomar, Kailash C. Pandey and Kapil Vashisht
    Citation: Human Genomics 2024 18:7

    The Correction to this article has been published in Human Genomics 2024 18:17

  15. Congenital heart defects (CHDs) are the heart structural malformations present at birth. Septal defects account for 40% of CHD, including atrial, ventricular and atrioventricular septal defects. In Pakistan, t...

    Authors: Syed Irtiza Ali, Obaid Yusuf Khan, Nadir Naveed, Hussain Ahmad, Najma Patel and Afsheen Arif
    Citation: Human Genomics 2024 18:6
  16. Mismatch repair (MMR) system is evolutionarily conserved for genome stability maintenance. Germline pathogenic variants (PVs) in MMR genes that lead to MMR functional deficiency are associated with high cancer...

    Authors: Huijun Lei, Jiaheng Li, Bojin Zhao, Si Hoi Kou, Fengxia Xiao, Tianhui Chen and San Ming Wang
    Citation: Human Genomics 2024 18:5
  17. This review discusses the landscape of personalized prevention and management of obesity from a nutrigenetics perspective. Focusing on macronutrient tailoring, we discuss the impact of genetic variation on res...

    Authors: Kalliopi K. Gkouskou, Maria G. Grammatikopoulou, Evgenia Lazou, Theodora Vasilogiannakopoulou, Despina Sanoudou and Aristides G. Eliopoulos
    Citation: Human Genomics 2024 18:4
  18. Circular RNAs (CircRNA) have emerged as an interest of research in recent years due to its regulatory role in various kinds of cancers of human body. Esophageal squamous cell carcinoma (ESCC) is one of the maj...

    Authors: Sachin Mulmi Shrestha, Xin Fang, Hui Ye, Lihua Ren, Qinghua Ji and Ruihua Shi
    Citation: Human Genomics 2024 18:3
  19. Clopidogrel is a widely prescribed prodrug that requires activation via specific pharmacogenes to exert its anti-platelet function. Genetic variations in the genes encoding its transporter, metabolizing enzyme...

    Authors: Lubna Q. Khasawneh, Habiba Alsafar, Hiba Alblooshi, Mushal Allam, George P. Patrinos and Bassam R. Ali
    Citation: Human Genomics 2024 18:2
  20. Despite a clear appreciation of the impact of human pathogens on community health, efforts to understand pathogen dynamics within populations often follow a narrow-targeted approach and rely on the deployment ...

    Authors: Kevin J. Sokoloski, Rochelle H. Holm, Melissa Smith, Easton E. Ford, Eric C. Rouchka and Ted Smith
    Citation: Human Genomics 2023 17:114
  21. Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still idiopathic in most of cases. Several mechanisms have been proposed including genetic and epigenetic interrelationships also conside...

    Authors: Veronica Tisato, Alessandro Castiglione, Andrea Ciorba, Claudia Aimoni, Juliana Araujo Silva, Ines Gallo, Elisabetta D’Aversa, Francesca Salvatori, Chiara Bianchini, Stefano Pelucchi, Paola Secchiero, Giorgio Zauli, Ajay Vikram Singh and Donato Gemmati
    Citation: Human Genomics 2023 17:112
  22. β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.

    Authors: Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du and Aihua Yin
    Citation: Human Genomics 2023 17:111
  23. In recent years, the mitochondria/immune system interaction has been proposed, so that variants of mitochondrial genome and levels of heteroplasmy might deregulate important metabolic processes in fighting inf...

    Authors: Felipe Gouvea de Souza, Moisés Batista da Silva, Gilderlanio S. de Araújo, Caio S. Silva, Andrey Henrique Gama Pinheiro, Miguel Ángel Cáceres-Durán, Mayara Natália Santana-da-Silva, Pablo Pinto, Angélica Rita Gobbo, Patrícia Fagundes da Costa, Claudio Guedes Salgado, Ândrea Ribeiro-dos-Santos and Giovanna C. Cavalcante
    Citation: Human Genomics 2023 17:110
  24. Recent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation to accurately interpret clinically relevant genetic variants in human diseases. Therefo...

    Authors: Shuangshuang Huang, Zhaoyu Wu, Tong Wang, Rui Yu, Zhijian Song and Hao Wang
    Citation: Human Genomics 2023 17:108
  25. In this study, we present a NGS-based panel designed for sequencing 1993 SNP loci for forensic DNA investigation. This panel addresses unique challenges encountered in forensic practice and allows for a compre...

    Authors: Qiong Lan, Yifeng Lin, Xi Wang, Xi Yuan, Chunmei Shen and Bofeng Zhu
    Citation: Human Genomics 2023 17:107
  26. Past studies suggest that there are changes in peripheral blood cell gene expression in response to ischaemic stroke; however, the specific changes which occur during the acute phase are poorly characterised. ...

    Authors: Joseph V. Moxon, Andrew Calcino, Ann-Katrin Kraeuter, James Phie, Georgina Anderson, Glenys Standley, Cindy Sealey, Rhondda E. Jones, Matt A. Field and Jonathan Golledge
    Citation: Human Genomics 2023 17:106
  27. Genetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. However, the importance of variants in the non-coding region, such as microRNAs (miRNAs), ...

    Authors: Rima Mustafa, Mohsen Ghanbari, Ville Karhunen, Marina Evangelou and Abbas Dehghan
    Citation: Human Genomics 2023 17:104
  28. We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary...

    Authors: LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi and Mustafa Tekin
    Citation: Human Genomics 2023 17:103
  29. Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American Co...

    Authors: Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima…
    Citation: Human Genomics 2023 17:102
  30. Comorbidities of coronavirus disease 2019 (COVID-19)/coronary heart disease (CHD) pose great threats to disease outcomes, yet little is known about their shared pathology. The study aimed to examine whether co...

    Authors: Siyue Wang, Hexiang Peng, Feng Chen, Chunfang Liu, Qiwen Zheng, Mengying Wang, Jiating Wang, Huan Yu, Enci Xue, Xi Chen, Xueheng Wang, Meng Fan, Xueying Qin, Yiqun Wu, Jin Li, Ying Ye…
    Citation: Human Genomics 2023 17:101
  31. Despite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (minor allele frequency < 1%) in genes associated to drug adsorption, distribution, meta...

    Authors: Elena De Mattia, Jerry Polesel, Marco Silvestri, Rossana Roncato, Lucia Scarabel, Stefano Calza, Michele Spina, Fabio Puglisi, Giuseppe Toffoli and Erika Cecchin
    Citation: Human Genomics 2023 17:99
  32. Genome sequencing has utility, however, it may reveal secondary findings. While Western bioethicists have been occupied with managing secondary findings, specialists’ attention in the Arabic countries has not ...

    Authors: Azhar T. Rahma, Aminu S. Abdullahi, Giulia Graziano and Iffat Elbarazi
    Citation: Human Genomics 2023 17:98
  33. Alternative splicing (AS) plays a crucial role in transcriptomic diversity and is a hallmark of cancer that profoundly influences the development and progression of prostate cancer (PCa), a prevalent and poten...

    Authors: Zhuofan Mou, Jack Spencer, John S. McGrath and Lorna W. Harries
    Citation: Human Genomics 2023 17:97
  34. Fragmentomics, the investigation of fragmentation patterns of cell-free DNA (cfDNA), has emerged as a promising strategy for the early detection of multiple cancers in the field of liquid biopsy. However, the ...

    Authors: Jaeryuk Kim, Seung-Pyo Hong, Seyoon Lee, Woochan Lee, Dakyung Lee, Rokhyun Kim, Young Jun Park, Sungji Moon, Kyunghyuk Park, Bukyoung Cha and Jong-Il Kim
    Citation: Human Genomics 2023 17:96
  35. Mitogen-activated protein kinases 1 and 3 (MAPK1 and MAPK3), also called extracellular regulated kinases (ERK2 and ERK1), are serine/threonine kinase activated downstream by the Ras/Raf/MEK/ERK signal transduc...

    Authors: Maria Petrosino, Leonore Novak, Alessandra Pasquo, Paola Turina, Emidio Capriotti, Velia Minicozzi, Valerio Consalvi and Roberta Chiaraluce
    Citation: Human Genomics 2023 17:95
  36. Tooth agenesis is a common dental anomaly that can substantially affect both the ability to chew and the esthetic appearance of patients. This study aims to identify possible genetic factors that underlie vari...

    Authors: Siyue Yao, Xi Zhou, Min Gu, Chengcheng Zhang, Oliver Bartsch, Barbara Vona, Liwen Fan, Lan Ma and Yongchu Pan
    Citation: Human Genomics 2023 17:93
  37. Congenital heart defects (CHDs) affect approximately half of individuals with Down syndrome (DS), but the molecular reasons for incomplete penetrance are unknown. Previous studies have largely focused on ident...

    Authors: Julia S. Mouat, Shaobo Li, Swe Swe Myint, Benjamin I. Laufer, Philip J. Lupo, Jeremy M. Schraw, John P. Woodhouse, Adam J. de Smith and Janine M. LaSalle
    Citation: Human Genomics 2023 17:92
  38. Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of pare...

    Authors: Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan and Brian H. Y. Chung
    Citation: Human Genomics 2023 17:91
  39. Previous studies have proposed that food intakes are associated with the risk of urolithiasis. Here, we conducted a two-sample Mendelian randomization (MR) study to evaluate the causal effects of different foo...

    Authors: Yiwei Lin, Cheng Zhou, Yuqing Wu, Hong Chen, Liping Xie and Xiangyi Zheng
    Citation: Human Genomics 2023 17:89
  40. Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of he...

    Authors: Susanna Nousiainen, Outi Kuismin, Siiri Reinikka, Roosa Manninen, Sara Khamaiseh, Mari Kuivalainen, Anna Terho, Sari Koivurova, Maarit Niinimäki, Kari Salokas, Markku Varjosalo, Anne Ahtikoski, Ralf Bützow, Outi Lindgren, Outi Uimari and Pia Vahteristo
    Citation: Human Genomics 2023 17:88

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