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  1. The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been wide...

    Authors: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao and Jian-Min Chen
    Citation: Human Genomics 2022 16:31
  2. The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. We aimed to understand the spectrum of cardiac channelopathy-associated variations in India, which is cha...

    Authors: Anjali Bajaj, Vigneshwar Senthivel, Rahul Bhoyar, Abhinav Jain, Mohamed Imran, Mercy Rophina, Mohit Kumar Divakar, Bani Jolly, Ankit Verma, Anushree Mishra, Disha Sharma, Siddharthan Deepti, Gautam Sharma, Raghav Bansal, Rakesh Yadav, Vinod Scaria…
    Citation: Human Genomics 2022 16:30
  3. High-cost, time-consuming and complex processes of several current approaches limit the use of noninvasive prenatal diagnosis (NIPD) for monogenic disorders in clinical application. Thus, a more cost-effective...

    Authors: Wenman Wu, Xuanyou Zhou, Zhengwen Jiang, Dazhi Zhang, Feng Yu, Lanlan Zhang, Xuefeng Wang, Songchang Chen and Chenming Xu
    Citation: Human Genomics 2022 16:28
  4. RT-PCR is the foremost clinical test for diagnosis of COVID-19. Unfortunately, PCR-based testing has limitations and may not result in a positive test early in the course of infection before symptoms develop. ...

    Authors: Cosby G. Arnold, Iain Konigsberg, Jason Y. Adams, Sunita Sharma, Neil Aggarwal, Andrew Hopkinson, Alexis Vest, Monica Campbell, Meher Boorgula, Ivana Yang, Christopher Gignoux, Kathleen C. Barnes and Andrew A. Monte
    Citation: Human Genomics 2022 16:27
  5. Genome-wide association studies (GWASs) have identified hundreds of loci for body mass index (BMI), but functional variants in these loci are less known. The purpose of this study was to identify RNA modificat...

    Authors: Jingyun Wu, Mimi Wang, Limin Han, Huan Zhang, Shufeng Lei, Yonghong Zhang and Xingbo Mo
    Citation: Human Genomics 2022 16:25
  6. More than half of human protein-coding genes have an alternative transcription start site (TSS). We aimed to investigate the contribution of alternative TSSs to the acute-stress-induced transcriptome response ...

    Authors: Pavel A. Makhnovskii, Oleg A. Gusev, Roman O. Bokov, Guzel R. Gazizova, Tatiana F. Vepkhvadze, Evgeny A. Lysenko, Olga L. Vinogradova, Fedor A. Kolpakov and Daniil V. Popov
    Citation: Human Genomics 2022 16:24
  7. Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not ...

    Authors: Jinshuang Gao, Xiaole Li, Yaqing Guo, Haiyang Yu, Liying Song, Yang Fang, Erfeng Yuan, Qianqian Shi, Dehua Zhao, Enwu Yuan and Linlin Zhang
    Citation: Human Genomics 2022 16:23
  8. This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism cau...

    Authors: Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary and Osama A. Kensara
    Citation: Human Genomics 2022 16:22
  9. COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics an...

    Authors: Michela Biancolella, Vito Luigi Colona, Ruty Mehrian-Shai, Jessica Lee Watt, Lucio Luzzatto, Giuseppe Novelli and Juergen K. V. Reichardt
    Citation: Human Genomics 2022 16:19
  10. A number of countries are leading the way in creating regulatory frameworks for preimplantation genetic testing (PGT). Among these countries, a point of consensus is that PGT may be used to avoid the birth of ...

    Authors: Kate Nakasato, Beverley Anne Yamamoto and Kazuto Kato
    Citation: Human Genomics 2022 16:16
  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. Gastric cancer (GC) shows high metastasis and low survival. RNA modification writers play critical roles in tumor development. This study examined the clinical significance of RNA modification writers in GC pr...

    Authors: Shi Zhang, Guanghao Kuang, Yao Huang, Xinxin Huang, Weiyu Wang and Guoqiang Wang
    Citation: Human Genomics 2022 16:14
  13. Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pulmonary alveolar microlithiasis (PAM). PAM is characterised by the deposition of calcium-p...

    Authors: Åsa Lina M. Jönsson, Nati Hernando, Thomas Knöpfel, Susie Mogensen, Elisabeth Bendstrup, Ole Hilberg, Jane Hvarregaard Christensen, Ulf Simonsen and Carsten A. Wagner
    Citation: Human Genomics 2022 16:13
  14. Osteosarcoma (OS) is the most common primary malignant bone tumor in children and young adults and has a poor prognosis. Recent developments in the field of high-throughput sequencing technology, particularly ...

    Authors: Yanjiao Wu, Zhiyun Wang, Jianlin Shen, Wei Yan, Shurong Xiang, Huan Liu and Wenhua Huang
    Citation: Human Genomics 2022 16:12
  15. Diabetes is a chronic metabolic disorder that leads to the dysfunction of various tissues and organs, including eyes, kidneys, and cardiovascular system. According to the World Health Organization, diabetes pr...

    Authors: Iman Akhlaghipour, Amir Reza Bina, Mohammad Reza Mogharrabi, Ali Fanoodi, Amir Reza Ebrahimian, Soroush Khojasteh Kaffash, Atefeh Babazadeh Baghan, Mohammad Erfan Khorashadizadeh, Negin Taghehchian and Meysam Moghbeli
    Citation: Human Genomics 2022 16:11
  16. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous s...

    Authors: Chunfang Chu, Lin Li, Shenghui Li, Qi Zhou, Ping Zheng, Yu-Di Zhang, Ai-hong Duan, Dan Lu and Yu-Mei Wu
    Citation: Human Genomics 2022 16:10
  17. There is an increasing interest worldwide in investigating healthcare stakeholders’ perceptions and intentions to adopt pharmacogenomics (PGx) into clinical practice. However, the existing inquiries based on w...

    Authors: Margarita-Ioanna Koufaki, Stavroula Siamoglou, George P. Patrinos and Konstantinos Vasileiou
    Citation: Human Genomics 2022 16:9
  18. Coronary artery disease (CAD) is a multifactorial disorder, which is partly heritable. Herein, we implemented a mapping of CAD-associated candidate genes by using genome-wide enhancer-promoter conformation (H3...

    Authors: Arnaud Chignon, Samuel Mathieu, Anne Rufiange, Déborah Argaud, Pierre Voisine, Yohan Bossé, Benoit J. Arsenault, Sébastien Thériault and Patrick Mathieu
    Citation: Human Genomics 2022 16:8
  19. Identification of genomic signals as indicators for functional genomic elements is one of the areas that received early and widespread application of machine learning methods. With time, the methods applied gr...

    Authors: Boris Jankovic and Takashi Gojobori
    Citation: Human Genomics 2022 16:7
  20. CYP2D6 is a key drug-metabolizing enzyme implicated in the biotransformation of approximately 25% of currently prescribed drugs. Interindividual and interethnic differences in CYP2D6 enzymatic activity, and he...

    Authors: Mousa Alali, Wouroud Ismail Al-khalil, Sara Rijjal, Lana Al-Salhi, Maher Saifo and Lama A. Youssef
    Citation: Human Genomics 2022 16:6
  21. Aerobic glycolysis is an emerging hallmark of cancer. Although some studies have constructed glycolysis-related prognostic models of colon adenocarcinoma (COAD) based on The Cancer Genome Atlas (TCGA) database...

    Authors: Zhenzhen Liu, Zhentao Liu, Xin Zhou, Yongqu Lu, Yanhong Yao, Wendong Wang, Siyi Lu, Bingyan Wang, Fei Li and Wei Fu
    Citation: Human Genomics 2022 16:5
  22. The UK Biobank is a large prospective cohort, based in the UK, that has deep phenotypic and genomic data on roughly a half a million individuals. Included in this resource are data on approximately 78,000 indi...

    Authors: Andrei-Emil Constantinescu, Ruth E. Mitchell, Jie Zheng, Caroline J. Bull, Nicholas J. Timpson, Borko Amulic, Emma E. Vincent and David A. Hughes
    Citation: Human Genomics 2022 16:3
  23. Genome-wide association studies have identified statistical associations between various diseases, including cancers, and a large number of single-nucleotide polymorphisms (SNPs). However, they provide no dire...

    Authors: Kim Philipp Jablonski, Leopold Carron, Julien Mozziconacci, Thierry Forné, Marc-Thorsten Hütt and Annick Lesne
    Citation: Human Genomics 2022 16:2
  24. Intermediate filament (IntFil) genes arose during early metazoan evolution, to provide mechanical support for plasma membranes contacting/interacting with other cells and the extracellular matrix. Keratin gene...

    Authors: Minh Ho, Brian Thompson, Jeffrey Nicholas Fisk, Daniel W. Nebert, Elspeth A. Bruford, Vasilis Vasiliou and Christopher G. Bunick
    Citation: Human Genomics 2022 16:1

    The Editorial to this article has been published in Human Genomics 2022 16:4

  25. Authors: Shannon Bruse, Michael Moreau, Yana Bromberg, Jun-Ho Jang, Nan Wang, Hongseok Ha, Maria Picchi, Yong Lin, Raymond J. Langley, Clifford Qualls, Julia Klesney-Tait, Joseph Zabner, Shuguang Leng, Jenny Mao, Steven A. Belinsky, Jinchuan Xing…
    Citation: Human Genomics 2021 15:74

    The original article was published in Human Genomics 2016 10:1

  26. Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) < 10% is often undetected in clinical settings. To date, only a few studies have...

    Authors: Daniel D. Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V. Schulze, Yaping Yang, Theresa A. Wilson, Ido Machol, Pengfei Liu and Paweł Stankiewicz
    Citation: Human Genomics 2021 15:72
  27. Genetic variation databases provide invaluable information on the presence and frequency of genetic variants in the ‘untargeted’ human population, aggregated with the primary goal to facilitate the interpretat...

    Authors: Vladimir Avramović, Simona Denise Frederiksen, Marjana Brkić and Maja Tarailo-Graovac
    Citation: Human Genomics 2021 15:71
  28. The genetic basis of phenotypic variation across populations has not been well explained for most traits. Several factors may cause disparities, from variation in environments to divergent population genetic s...

    Authors: Britney E. Graham, Brian Plotkin, Louis Muglia, Jason H. Moore and Scott M. Williams
    Citation: Human Genomics 2021 15:70
  29. In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discovered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly from...

    Authors: Nasna Nassir, Asma Bankapur, Bisan Samara, Abdulrahman Ali, Awab Ahmed, Ibrahim M. Inuwa, Mehdi Zarrei, Seyed Ali Safizadeh Shabestari, Ammar AlBanna, Jennifer L. Howe, Bakhrom K. Berdiev, Stephen W. Scherer, Marc Woodbury-Smith and Mohammed Uddin
    Citation: Human Genomics 2021 15:68
  30. Heart failure (HF) is one of the most common complications of cardiovascular diseases (CVDs) and among the leading causes of death in the US. Many other CVDs can lead to increased mortality as well. Investigat...

    Authors: Zeeshan Ahmed, Saman Zeeshan and Bruce T. Liang
    Citation: Human Genomics 2021 15:67
  31. Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women in Africa after cervical cancer. Even if the epidemiological data are now aligned with...

    Authors: Michela Biancolella, Nabonswindé Lamoussa Marie Ouédraogo, Nayi Zongo, Théodora Mahoukèdè Zohoncon, Barbara Testa, Barbara Rizzacasa, Andrea Latini, Chiara Conte, Tégwindé Rebeca Compaore, Charlemagne Marie Rayang-Newendé Ouedraogo, Si Simon Traore, Jacques Simpore and Giuseppe Novelli
    Citation: Human Genomics 2021 15:65
  32. Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabet...

    Authors: Hamza Chouk, Mohamed Ben Rejeb, Lobna Boussofara, Haїfa Elmabrouk, Najet Ghariani, Badreddine Sriha, Ali Saad, Dorra H’Mida and Mohamed Denguezli
    Citation: Human Genomics 2021 15:63
  33. Pharmacists play a unique role in integrating genomic medicine and pharmacogenomics into the clinical practice and to translate pharmacogenomics from bench to bedside. However, the literature suggests that the...

    Authors: Azhar T. Rahma, Iffat Elbarazi, Bassam R. Ali, George P. Patrinos, Luai A. Ahmed, Mahanna Elsheik and Fatma Al-Maskari
    Citation: Human Genomics 2021 15:62
  34. Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the gen...

    Authors: Shaza Malik, Roan Zaied, Najeeb Syed, Puthen Jithesh and Mashael Al-Shafai
    Citation: Human Genomics 2021 15:61
  35. Single-variant associations with age-related macular degeneration (AMD), one of the most prevalent causes of irreversible vision loss worldwide, have been studied extensively. However, because of a lack of ref...

    Authors: Chris M. Pappas, Moussa A. Zouache, Stacie Matthews, Caitlin D. Faust, Jill L. Hageman, Brandi L. Williams, Burt T. Richards and Gregory S. Hageman
    Citation: Human Genomics 2021 15:60
  36. Low-pass sequencing (LPS) has been extensively investigated for applicability to various genetic studies due to its advantages over genotype array data including cost-effectiveness. Predicting the risk of comp...

    Authors: Sungjae Kim, Jong-Yeon Shin, Nak-Jung Kwon, Chang-Uk Kim, Changhoon Kim, Chong Sik Lee and Jeong-Sun Seo
    Citation: Human Genomics 2021 15:58

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