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Public Health Genomics


Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.

Guest Editors

George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA

  1. Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multi-functional protein involved in many cellular processes, but the m...

    Authors: Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch and Judith Armstrong
    Citation: Human Genomics 2023 17:85
  2. Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants.

    Authors: Chuan Zhang, Pei Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao and Xu Ma
    Citation: Human Genomics 2023 17:36
  3. Non-recombining regions of the Y-chromosome recorded the evolutionary traces of male human populations and are inherited haplotype-dependently and male-specifically. Recent whole Y-chromosome sequencing studie...

    Authors: Guanglin He, Mengge Wang, Lei Miao, Jing Chen, Jie Zhao, Qiuxia Sun, Shuhan Duan, Zhiyong Wang, Xiaofei Xu, Yuntao Sun, Yan Liu, Jing Liu, Zheng Wang, Lanhai Wei, Chao Liu, Jian Ye…
    Citation: Human Genomics 2023 17:29
  4. Single-nucleotide polymorphisms (SNPs) and DNA methylation are crucial regulators of essential hypertension (EH). Amyloid precursor protein (APP) mutations are implicated in hypertension development. Nonetheless,...

    Authors: Ruichao Li, Juhui Song, Ansu Zhao, Xiaoyan Diao, Ting Zhang, Xiaolan Qi, Zhizhong Guan, Yu An, Lingyan Ren, Chanjuan Wang and Yan He
    Citation: Human Genomics 2023 17:25
  5. Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome du...

    Authors: Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang and Nejat Mahdieh
    Citation: Human Genomics 2023 17:12
  6. At present, the hereditary hearing loss homepage, (https://​hereditaryhearin​gloss.​org/​), includes 258 deafness genes and more than 500 genes that have been re...

    Authors: Jing Ma, Xiuli Ma, Ken Lin, Rui Huang, Xianyun Bi, Cheng Ming, Li Li, Xia Li, Guo Li, Liping Zhao, Tao Yang, Yingqin Gao and Tiesong Zhang
    Citation: Human Genomics 2023 17:1
  7. Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy i...

    Authors: Abdulrahman H. Al Anazi, Ahmed S. Ammar, Mahmoud Al-Hajj, Cyril Cyrus, Danah Aljaafari, Iname Khoda, Ahmed K. Abdelfatah, Abdullah A. Alsulaiman, Firas Alanazi, Rawan Alanazi, Divya Gandla, Hetal Lad, Samar Barayan, Brendan J. Keating and Amein K. Al-Ali
    Citation: Human Genomics 2022 16:71
  8. Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs relat...

    Authors: Ping Li, Weicheng Chen, Mengru Li, Zhengshan Zhao, Zhiyu Feng, Han Gao, Meijiao Suo, Ziqing Xu, Guixiang Tian, Feizhen Wu, Sheng Wei and Guoying Huang
    Citation: Human Genomics 2022 16:51
  9. A major challenge to enabling precision health at a global scale is the bias between those who enroll in state sponsored genomic research and those suffering from chronic disease. More than 30 million people h...

    Authors: Arturo Lopez-Pineda, Manvi Vernekar, Sonia Moreno-Grau, Agustin Rojas-Muñoz, Babak Moatamed, Ming Ta Michael Lee, Marco A. Nava-Aguilar, Gilberto Gonzalez-Arroyo, Kensuke Numakura, Yuta Matsuda, Alexander Ioannidis, Nicholas Katsanis, Tomohiro Takano and Carlos D. Bustamante
    Citation: Human Genomics 2022 16:37
  10. Bicuspid aortic valve (BAV) is the most common congenital heart defect in human beings, with an estimated prevalence in the general population of between 0.5 and 2%. Moreover, BAV is the most common cause of a...

    Authors: Shasha Chen, Qinchun Jin, Shiqiang Hou, Mingfei Li, Yuan Zhang, Lihua Guan, Wenzhi Pan, Junbo Ge and Daxin Zhou
    Citation: Human Genomics 2022 16:36
  11. Obesity is a complex, multifactorial condition in which genetic play an important role. Most of the systematic studies currently focuses on individual omics aspect and provide insightful yet limited knowledge ...

    Authors: Qiang Zhang, Xiang-He Meng, Chuan Qiu, Hui Shen, Qi Zhao, Lan-Juan Zhao, Qing Tian, Chang-Qing Sun and Hong-Wen Deng
    Citation: Human Genomics 2022 16:15
  12. Adult bone marrow-derived mesenchymal stem cells (BM-MSCs) are multipotent stem cells that can differentiate into three lineages. They are suitable sources for cell-based therapy and regenerative medicine appl...

    Authors: Fatemeh Khodabandehloo, Sara Taleahmad, Reza Aflatoonian, Farzad Rajaei, Zahra Zandieh, Marjan Nassiri-Asl and Mohamadreza Baghaban Eslaminejad
    Citation: Human Genomics 2020 14:43
  13. Colon adenocarcinoma (COAD) is one of the common gastrointestinal malignant diseases, with high mortality rate and poor prognosis due to delayed diagnosis. This study aimed to construct a prognostic prediction...

    Authors: Lipeng Jin, Chenyao Li, Tao Liu and Lei Wang
    Citation: Human Genomics 2020 14:24
  14. An individual’s response to environmental exposures varies depending on their genotype, which has been termed the gene-environment interaction. The phenotype of cell exposed can also be a key determinant in th...

    Authors: Andreanna Burman, Rolando Garcia-Milian and Shannon Whirledge
    Citation: Human Genomics 2020 14:19
  15. The recent coronavirus disease (COVID-19), caused by SARS-CoV-2, is inarguably the most challenging coronavirus outbreak relative to the previous outbreaks involving SARS-CoV and MERS-CoV. With the number of C...

    Authors: Krystal J. Godri Pollitt, Jordan Peccia, Albert I. Ko, Naftali Kaminski, Charles S. Dela Cruz, Daniel W. Nebert, Juergen K.V. Reichardt, David C. Thompson and Vasilis Vasiliou
    Citation: Human Genomics 2020 14:17
  16. Recurrent implantation failure (RIF) is the failure of embryos to implant more than two times in a given individual. There is debate about a precise definition for RIF, but we consider more than two implantati...

    Authors: Jeong Yong Lee, Eun Hee Ahn, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ji Hyang Kim, Young Ran Kim, Woo Sik Lee and Nam Keun Kim
    Citation: Human Genomics 2019 13:68
  17. In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limit...

    Authors: Marlon S. Zambrano-Mila, Spiros N. Agathos and Juergen K. V. Reichardt
    Citation: Human Genomics 2019 13:64
  18. Long non-coding RNAs became the hot spots in the carcinogenesis of various tumors. This case-control study evaluated the association between the rs2151280 in lncRNA CDKN2B-AS1 and lung cancer risk.

    Authors: Xiaoting Lv, Zhigang Cui, Hang Li, Juan Li, Zitai Yang, Yanhong Bi, Min Gao, Ziwei Zhang, Shengli Wang, Baosen Zhou and Zhihua Yin
    Citation: Human Genomics 2019 13:58
  19. Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unkn...

    Authors: Carlos Ruiz-Arenas, Alejandro Cáceres, Victor Moreno and Juan R. González
    Citation: Human Genomics 2019 13:57
  20. Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, includi...

    Authors: Sridhar Sivasubbu and Vinod Scaria
    Citation: Human Genomics 2019 13:52
  21. Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colo...

    Authors: Khitam Muhsen, Ronit Sinnreich, Dafna Merom, Hisham Nassar, Dani Cohen and Jeremy D. Kark
    Citation: Human Genomics 2019 13:32
  22. Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture ...

    Authors: Ana R. Cardoso, Mónica Lopes-Marques, Raquel M. Silva, Catarina Serrano, António Amorim, Maria J. Prata and Luísa Azevedo
    Citation: Human Genomics 2019 13:31
  23. Obesity during childhood can lead to increased risk of adverse cardiometabolic diseases such as type 2 diabetes and coronary artery disease during adult life. Evidence for strong genetic correlations between c...

    Authors: Fasil Tekola-Ayele, Anthony Lee, Tsegaselassie Workalemahu and Katy Sánchez-Pozos
    Citation: Human Genomics 2019 13:17
  24. Age-related macular degeneration (AMD) is the most common, progressive, and polygenic cause of irreversible visual impairment in the world. The molecular pathogenesis of the primary events of AMD is poorly und...

    Authors: Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu and Hu Huang
    Citation: Human Genomics 2019 13:15
  25. Increasing evidence is demonstrating that a patient’s unique genetic profile can be used to detect the disease’s onset, prevent its progression, and optimize its treatment. This led to the increased global eff...

    Authors: Lejla Mahmutovic, Betul Akcesme, Camil Durakovic, Faruk Berat Akcesme, Aida Maric, Muhamed Adilovic, Nour Hamad, Matthias Wjst, Oliver Feeney and Sabina Semiz
    Citation: Human Genomics 2018 12:50