Displaying publications 41 - 59 of 59 in total

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  1. Liu Y, Liu H, Qian J, Luan J, Mu Y, Xiao C, et al.
    ACS Appl Mater Interfaces, 2025 Jan 22;17(3):5026-5037.
    PMID: 39801065 DOI: 10.1021/acsami.4c19881
    The electrocatalytic conversion of oxygen to hydrogen peroxide offers a promising pathway for sustainable energy production. However, the development of catalysts that are highly active, stable, and cost-effective for hydrogen peroxide synthesis remains a significant challenge. In this study, a novel polyacid-based metal-organic coordination compound (Cu-PW) was synthesized using a hydrothermal approach. Cu-PW served as a precursor to construct a composite electrocatalyst featuring a heterointerface between CuWO4 and WO3 (CuWO4/WO3) through pyrolysis. The CuWO4/WO3 heterojunction exhibits an impressive H2O2 selectivity of 91.84% at 0.5 V, marking a 19.65% improvement compared to the pristine Cu-PW. Furthermore, the CuWO4/WO3 catalyst demonstrates exceptional stability, maintaining continuous operation for 29 h. At 0.1 V, it delivers a hydrogen peroxide yield of 1537.8 mmol g-1 h-1, with a Faraday efficiency (FE) of 85%. Additionally, this catalyst effectively degrades methyl blue, achieving a 95% removal from an aqueous system within 30 min. Theoretical analysis further corroborates the high electroactivity of CuWO4/WO3 heterojunction structure. The Cu-O-W bridge formed during the reaction facilitates interfacial electron transport and enhances the role of the W-O bond in proton adsorption and transfer kinetics. This strong interfacial coupling in CuWO4/WO3 promotes electron transfer and the formation of *OOH intermediates, thereby favoring hydrogen peroxide generation. Hence, the as-prepared CuWO4/WO3 demonstrates great potential as an efficient electrocatalyst for the green synthesis of hydrogen peroxide, exhibiting high efficiency as a two-electron oxygen reduction reaction catalyst. This work offers a new approach for fabricating CuWO4/WO3 electrocatalyst with high electroactivity and selectivity, paving the way for cost-effective and sustainable hydrogen peroxide production, significantly reducing reliance on the conventional anthraquinone process.
  2. Zhang Q, Huang X, Zhang Y, Chao Z, Zhou R, Hamid RA, et al.
    Sci Rep, 2024 Oct 22;14(1):24886.
    PMID: 39438628 DOI: 10.1038/s41598-024-76666-6
    Walking pace is a simple and functional form of exercise and a strong predictor of health, but little is known about its causal association with rheumatoid arthritis. This study aimed to investigate the causal effect of WP on the developing RA using Mendelian randomization analysis. The genetic variation associated with WP was selected as an instrumental variable from the latest genome-wide association studies. Summary-level data for the outcomes were obtained from the corresponding GWAS. The inverse-variance weighted method was used as the primary MR analysis. The results were further tested using a multivariable MR approach based on Bayesian model averaging. Confounders (BMI, SMK, HBP, TD) with close associations with RA were included in the analysis. An observational study with individual data from UK Biobank was performed to reinforce our findings. The MR results indicated the significant inverse associations of WP with the risk of RA (odds ratio (OR), 0.31; 95% confidence interval (CI), 0.15, 0.62; p = 1.05 × 10 -3). After adjusting for the risk factors, the associations for WP and RA did not change substantially. Observational study results demonstrated the same effect of WP on reducing the risk of RA. The Mendelian randomization analysis and observational study provide evidence suggesting that walking pace is a protective factor for rheumatoid arthritis. Given its simple measurement, walking pace may be a pragmatic target for interventions.
  3. Irving AT, Zhang Q, Kong PS, Luko K, Rozario P, Wen M, et al.
    Cell Rep, 2020 11 03;33(5):108345.
    PMID: 33147460 DOI: 10.1016/j.celrep.2020.108345
    Bat cells and tissue have elevated basal expression levels of antiviral genes commonly associated with interferon alpha (IFNα) signaling. Here, we show Interferon Regulatory Factor 1 (IRF1), 3, and 7 levels are elevated in most bat tissues and that, basally, IRFs contribute to the expression of type I IFN ligands and high expression of interferon regulated genes (IRGs). CRISPR knockout (KO) of IRF 1/3/7 in cells reveals distinct subsets of genes affected by each IRF in an IFN-ligand signaling-dependent and largely independent manner. As the master regulators of innate immunity, the IRFs control the kinetics and maintenance of the IRG response and play essential roles in response to influenza A virus (IAV), herpes simplex virus 1 (HSV-1), Melaka virus/Pteropine orthoreovirus 3 Melaka (PRV3M), and Middle East respiratory syndrome-related coronavirus (MERS-CoV) infection. With its differential expression in bats compared to that in humans, this highlights a critical role for basal IRF expression in viral responses and potentially immune cell development in bats with relevance for IRF function in human biology.
  4. Chai X, Li X, Hii KS, Zhang Q, Deng Q, Wan L, et al.
    Mar Environ Res, 2021 Jul;169:105398.
    PMID: 34171592 DOI: 10.1016/j.marenvres.2021.105398
    Coastal eutrophication is one of the pivotal factors driving occurrence of harmful algal blooms (HABs), whose underlying mechanism remained unclear. To better understand the nutrient regime triggering HABs and their formation process, the phytoplankton composition and its response to varying nitrogen (N) and phosphorus (P), physio-chemical parameters in water and sediment in Johor Strait in March 2019 were analyzed. Surface and sub-surface HABs were observed with the main causative species of Skeletonema, Chaetoceros and Karlodinium. The ecophysiological responses of Skeletonema to the low ambient N/P ratio such as secreting alkaline phosphatase, regulating cell morphology (volume; surface area/volume ratio) might play an important role in dominating the community. Anaerobic sediment iron-bound P release and simultaneous N removal by denitrification and anammox, shaped the stoichiometry of N and P in water column. The decrease of N/P ratio might shift the phytoplankton community into the dominance of HABs causative diatoms and dinoflagellates.
  5. Wang ZX, Chee WM, Jantan AHB, Xia YH, Xue H, Ye MJ, et al.
    Acta Psychol (Amst), 2024 Aug;248:104371.
    PMID: 38908227 DOI: 10.1016/j.actpsy.2024.104371
    The consumption value seems to be insufficient to explain consumers' domestic electric vehicle purchase behaviour, especially in a highly competitive global environment. This study aims to investigate how consumer ethnocentrism and perceived interactivity influence consumption value and pro-environmental value, subsequently affecting attitude and intention. A total of 353 valid questionnaires were collected through convenience sampling in Xuzhou, China, and the partial least square (PLS) path modelling approach was performed to test the hypotheses. The results show that consumer ethnocentrism and perceived interactivity positively influence function value, emotional value, and social value; perceived interactivity also positively influences altruistic value, biospheric value, and collectivistic value. Function value, social value, and collectivistic value positively influence attitude; however, emotional value, altruistic value and biospheric value did not find a correlation with attitude. Furthermore, attitude positively influences intention to adopt domestic electric vehicles. Finally, the theoretical and practical implications, as well as limitations were discussed accordingly.
  6. Song Z, Li Y, Tian Q, Sun C, Liu H, Chong K, et al.
    Int J Surg, 2025 Feb 24.
    PMID: 39998510 DOI: 10.1097/JS9.0000000000002308
    HYPOTHESIS: This study hypothesized that augmented reality (AR) technology has comparable accuracy and safety to conventional CT localization in guiding percutaneous transthoracic lung puncture (PTLP) to localize small pulmonary nodules.

    METHODS: This study was a prospective, non-inferiority randomized clinical trial. Patients were randomly assigned between 23 May 2023, and 26 September 2023. Patients with small peripheral lung nodules (≤2 cm) were recruited.Patients were randomly assigned to either the CT-guided PTLP group or the AR-guided PTLP group, with a 1:1 allocation ratio. The primary outcome was the accuracy of lung nodule localization measured by localization error. The secondary outcomes included procedure duration, radiation exposure dosage and complications.

    RESULTS: A total of 70 patients underwent either CT- or AR-guided lung nodule localization and subsequent surgeries. Localization error was smaller in the AR-guided group than in the CT-guided group (mean ± SD, 3.1 ± 4.0 mm vs. 5.4 ± 4.2 mm, P = 0.026). The mean difference of localization errors was -2.3 mm (95% CI: - 4.2 to -0.3 mm, P < 0.001 for non-inferiority). Compared to the CT-guided group, the AR-guided group demonstrated significantly lower radiation exposure (mean ± SD, 421 ± 168 vs. 694 ± 229 mGy × cm, P < 0.001) and shorter localization procedure duration (mean ± SD, 8.8 ± 2.3 vs. 14.1 ± 1.8 minutes, P < 0.001), with no statistical difference in complications.

    CONCLUSIONS: The accuracy of the AR-guided approach is comparable to that of the CT-guided approach in localizing small lung nodules. Furthermore, the utilization of AR technology has been demonstrated to reduce procedural time and minimize radiation exposure for patients.

  7. Ahn M, Anderson DE, Zhang Q, Tan CW, Lim BL, Luko K, et al.
    Nat Microbiol, 2019 05;4(5):789-799.
    PMID: 30804542 DOI: 10.1038/s41564-019-0371-3
    Bats are special in their ability to host emerging viruses. As the only flying mammal, bats endure high metabolic rates yet exhibit elongated lifespans. It is currently unclear whether these unique features are interlinked. The important inflammasome sensor, NLR family pyrin domain containing 3 (NLRP3), has been linked to both viral-induced and age-related inflammation. Here, we report significantly dampened activation of the NLRP3 inflammasome in bat primary immune cells compared to human or mouse counterparts. Lower induction of apoptosis-associated speck-like protein containing a CARD (ASC) speck formation and secretion of interleukin-1β in response to both 'sterile' stimuli and infection with multiple zoonotic viruses including influenza A virus (-single-stranded (ss) RNA), Melaka virus (PRV3M, double-stranded RNA) and Middle East respiratory syndrome coronavirus (+ssRNA) was observed. Importantly, this reduction of inflammation had no impact on the overall viral loads. We identified dampened transcriptional priming, a novel splice variant and an altered leucine-rich repeat domain of bat NLRP3 as the cause. Our results elucidate an important mechanism through which bats dampen inflammation with implications for longevity and unique viral reservoir status.
  8. Zhang Q, Wang PI, Ong GL, Tan SH, Tan ZW, Hii YH, et al.
    Polymers (Basel), 2019 May 09;11(5).
    PMID: 31075895 DOI: 10.3390/polym11050840
    In this work, polymers of poly[(9,9-dioctylfluorenyl-2,7-diyl)-co-triphenylamine] with side chains containing: pyrene (C1), diphenyl (C2), naphthalene (C3), and isopropyl (C6) structures were synthesized via a Suzuki coupling reaction. The structures were verified using NMR and cyclic voltammetry measurements provide the HOMO and LUMO of the polymers. The polymer with pyrene (C1) and naphthalene (C3) produced photoluminescence in the green while the polymer with the side chain containing diphenyl (C2) and isopropyl (C6) produce dual emission peaks of blue-green photoluminescence (PL). In order to examine the electroluminescence properties of the polymers, the solutions were spin-coated onto patterned ITO anode, dried, and subsequently coated with an Al cathode layer to form pristine single layer polymer LEDs. The results are compared to a standard PFO sample. The electroluminescence spectra resemble the PL spectra for C1 and C3. The devices of C2, C3, and C6 exhibit voltage-dependent EL. An additional red emission peak was detected for C2 and C6, resulting in spectra with peaks at 435 nm, 490 nm, and 625 nm. The effects of the side chains on the spectral characteristics of the polymer are discussed.
  9. Dong M, Zeng LN, Zhang Q, Yang SY, Chen LY, Sim K, et al.
    J Geriatr Psychiatry Neurol, 2019 11;32(6):304-311.
    PMID: 31480982 DOI: 10.1177/0891988719862636
    BACKGROUND AND OBJECTIVE: Antipsychotic polypharmacy (APP) is a controversial topic in the treatment of older adults with schizophrenia. The objective of this study was to examine the use of APP in older adult Asian patients with schizophrenia and its associated demographic and clinical factors.

    METHODS: This study was based on the fourth survey of the consortium known as the Research on Asian Psychotropic Prescription Pattern for Antipsychotics. Fifteen Asian countries/territories participated in this survey, including Bangladesh, Mainland China, Hong Kong, India, Indonesia, Japan, Korea, Malaysia, Myanmar, Pakistan, Singapore, Sri Lanka, Taiwan, Thailand, and Vietnam. Basic demographic and clinical characteristics were collected using a standardized data collection form.

    RESULTS: Among the 879 older adults with schizophrenia included in the survey, the rate of APP was 40.5%. Multiple logistic regression analysis revealed that higher antipsychotic doses (P < .001, odds ratio [OR] = 1.003, 95% confidence interval [CI]: 1.002-1.003), longer duration of illness (P = .02, OR = 1.845, 95% CI: 1.087-3.132), and the prescription of anticholinergics (P < .001, OR = 1.871, 95% CI: 1.329-2.635), second-generation antipsychotics (P = .001, OR = 2.264, 95% CI: 1.453-3.529), and first-generation antipsychotics (P < .001, OR = 3.344, 95% CI: 2.307-4.847) were significantly associated with APP.

    CONCLUSION: Antipsychotic polypharmacy was common in older adult Asian patients with schizophrenia. Compared to the results of previous surveys, the use of APP showed a declining trend over time. Considering the general poor health status of older patients with schizophrenia and their increased risk of drug-induced adverse events, the use of APP in this population needs careful consideration.

  10. Pardhi DM, Şen Karaman D, Timonen J, Wu W, Zhang Q, Satija S, et al.
    Int J Pharm, 2020 Aug 30;586:119531.
    PMID: 32540348 DOI: 10.1016/j.ijpharm.2020.119531
    This review details the antimicrobial applications of inorganic nanomaterials of mostly metallic form, and the augmentation of activity by surface conjugation of peptide ligands. The review is subdivided into three main sections, of which the first describes the antimicrobial activity of inorganic nanomaterials against gram-positive, gram-negative and multidrug-resistant bacterial strains. The second section highlights the range of antimicrobial peptides and the drug resistance strategies employed by bacterial species to counter lethality. The final part discusses the role of antimicrobial peptide-decorated inorganic nanomaterials in the fight against bacterial strains that show resistance. General strategies for the preparation of antimicrobial peptides and their conjugation to nanomaterials are discussed, emphasizing the use of elemental and metallic oxide nanomaterials. Importantly, the permeation of antimicrobial peptides through the bacterial membrane is shown to aid the delivery of nanomaterials into bacterial cells. By judicious use of targeting ligands, the nanomaterial becomes able to differentiate between bacterial and mammalian cells and, thus, reduce side effects. Moreover, peptide conjugation to the surface of a nanomaterial will alter surface chemistry in ways that lead to reduction in toxicity and improvements in biocompatibility.
  11. Zhong XM, Wang F, Zhang Q, Ungvari GS, Ng CH, Chiu HFK, et al.
    Int Psychogeriatr, 2019 May;31(5):685-691.
    PMID: 29212560 DOI: 10.1017/S1041610217002563
    ABSTRACTBackground:Little is known about the combined use of benzodiazepines and antidepressants in older psychiatric patients. This study examined the prescription pattern of concurrent benzodiazepines in older adults treated with antidepressants in Asia, and explored its demographic and clinical correlates.

    METHODS: The data of 955 older adults with any type of psychiatric disorders were extracted from the database of the Research on Asian Psychotropic Prescription Patterns for Antidepressants (REAP-AD) project. Demographic and clinical characteristics were recorded using a standardized protocol and data collection procedure. Both univariate and multiple logistic regression analyses were performed.

    RESULTS: The proportion of benzodiazepine and antidepressant combination in this cohort was 44.3%. Multiple logistic regression analysis revealed that higher doses of antidepressants, younger age (<65 years), inpatients, public hospital, major comorbid medical conditions, antidepressant types, and country/territory were significantly associated with more frequent co-prescription of benzodiazepines and antidepressants.

    CONCLUSIONS: Nearly, half of the older adults treated with antidepressants in Asia are prescribed concurrent benzodiazepines. Given the potentially adverse effects of benzodiazepines, the rationale of benzodiazepines and antidepressants co-prescription needs to be revisited.

  12. Zhong XM, Dong M, Wang F, Zhang Q, Ungvari GS, Ng CH, et al.
    Psychogeriatrics, 2018 Sep;18(5):351-356.
    PMID: 29989257 DOI: 10.1111/psyg.12327
    BACKGROUND: The present study explored the patterns of physical comorbidities and their associated demographic and clinical factors in older psychiatric patients prescribed with antidepressants in Asia.

    METHODS: Demographic and clinical information of 955 older adults were extracted from the database of the Research on Asian Psychotropic Prescription Patterns for Antidepressants (REAP-AD) project. Standardized data collection procedure was used to record demographic and clinical data.

    RESULTS: Proportion of physical comorbidities in this cohort was 44%. Multiple logistic regression analyses showed that older age (OR = 1.7, P 

  13. Dong M, Zeng LN, Zhang Q, Ungvari GS, Ng CH, Chiu HFK, et al.
    Psychogeriatrics, 2019 Jul;19(4):333-339.
    PMID: 30734411 DOI: 10.1111/psyg.12416
    AIM: Depressive disorders are common in old age. Antipsychotics (APs) are often used as an adjunctive treatment with antidepressants (ADs) in this population but its patterns of use in Asia are not known. This study explored the rate of combination of APs and ADs in older adult psychiatric patients in Asia.

    METHODS: This is a secondary analysis of the database of a multicentre study which recorded participants' basic demographical and clinical data in standardised format in 10 Asian countries and territories. The data were analysed using univariate and multivariate logistic regression analyses.

    RESULTS: A total of 955 older adult psychiatric in- and outpatients were included in this study. The proportion of concurrent AP and AD use was 32.0%, ranging from 23.3% in Korea to 44.0% in Taiwan. Multivariate logistic regression analysis found that younger age, inpatient status and diagnosis of schizophrenia, anxiety and other mental disorders were significantly related to a higher proportion of concurrent use of APs and ADs.

    CONCLUSION: Around a third of older adult psychiatric patients had concurrent AP and AD use in the Asian countries/regions surveyed. Considering the uncertain effectiveness and questionable safety of the AP and AD combination in this patient population, such should be cautiously used.

  14. Xu SW, Dong M, Zhang Q, Yang SY, Chen LY, Sim K, et al.
    Psychiatry Res, 2020 05;287:112271.
    PMID: 30885383 DOI: 10.1016/j.psychres.2019.02.056
    Clozapine is an effective antipsychotic medication for treatment resistant schizophrenia and is widely used in Asian countries. This study investigated clozapine prescription patterns and their associated factors in Asian countries and territories based on the database of the Research on Asian Psychotropic prescription study (REAP) conducted in 2016. Demographic and clinical information of 3744 schizophrenia patients in 15 Asian countries and territories was collected with a standardized data collection form. In total, 18.4% of the sample received clozapine, ranging from 2.6% in Japan to 32.3% in Hong Kong. Binary logistic regression analysis revealed that higher antipsychotic dose (OR = 1.002, P 
  15. Dong M, Zeng LN, Zhang Q, Yang SY, Chen LY, Najoan E, et al.
    Asian J Psychiatr, 2019 Oct;45:74-80.
    PMID: 31520884 DOI: 10.1016/j.ajp.2019.08.010
    OBJECTIVE: Regular surveys are important to monitor the use of psychotropic medications in clinical practice. This study examined the psychotropic prescription patterns in adult Asian schizophrenia patients based on the data of the Research on Asian Psychotropic Prescription (REAP) 2016 survey.

    METHODS: This cross-sectional survey across 15 Asian countries/territories collected socio-demographic and clinical data with standardized procedures between March and May 2016. The socio-demographic and clinical characteristics of the patients were recorded with a standardized questionnaire.

    RESULTS: Altogether 3,537 adult patients with schizophrenia were consecutively screened and enrolled in the survey. The mean age was 38.66 ± 11.55 years and 59.7% of the sample were male. The mean dose of antipsychotics in chlorpromazine equivalents (CPZeq) was 424 ± 376 mg/day; 31.3% and 80.8% received first- and second- generation antipsychotics, respectively and 42.6% had antipsychotic polypharmacy, 11.7% had antidepressants, 13.7% had mood stabilizers, 27.8% had benzodiazepines, and 45.6% had anticholinergics.

    CONCLUSIONS: Psychotropic prescription patterns in Asian adult patients with schizophrenia varied across countries. Regular surveys on psychotropic medications for schizophrenia are important to monitor pharmacotherapy practice in Asia.

  16. Gardner EM, Bruun-Lund S, Niissalo M, Chantarasuwan B, Clement WL, Geri C, et al.
    Proc Natl Acad Sci U S A, 2023 Jul 11;120(28):e2222035120.
    PMID: 37399402 DOI: 10.1073/pnas.2222035120
    Studies investigating the evolution of flowering plants have long focused on isolating mechanisms such as pollinator specificity. Some recent studies have proposed a role for introgressive hybridization between species, recognizing that isolating processes such as pollinator specialization may not be complete barriers to hybridization. Occasional hybridization may therefore lead to distinct yet reproductively connected lineages. We investigate the balance between introgression and reproductive isolation in a diverse clade using a densely sampled phylogenomic study of fig trees (Ficus, Moraceae). Codiversification with specialized pollinating wasps (Agaonidae) is recognized as a major engine of fig diversity, leading to about 850 species. Nevertheless, some studies have focused on the importance of hybridization in Ficus, highlighting the consequences of pollinator sharing. Here, we employ dense taxon sampling (520 species) throughout Moraceae and 1,751 loci to investigate phylogenetic relationships and the prevalence of introgression among species throughout the history of Ficus. We present a well-resolved phylogenomic backbone for Ficus, providing a solid foundation for an updated classification. Our results paint a picture of phylogenetically stable evolution within lineages punctuated by occasional local introgression events likely mediated by local pollinator sharing, illustrated by clear cases of cytoplasmic introgression that have been nearly drowned out of the nuclear genome through subsequent lineage fidelity. The phylogenetic history of figs thus highlights that while hybridization is an important process in plant evolution, the mere ability of species to hybridize locally does not necessarily translate into ongoing introgression between distant lineages, particularly in the presence of obligate plant-pollinator relationships.
  17. Gill H, Raghupathy R, Hou HA, Cheng-Hong Tsai X, Tantiworawit A, Ooi MG, et al.
    Blood Adv, 2025 Feb 25;9(4):862-876.
    PMID: 39693517 DOI: 10.1182/bloodadvances.2024014999
    The Acute Promyelocytic Leukemia (APL) Asian Consortium analyzed a contemporaneous cohort of newly diagnosed patients with APL treated with and without frontline arsenic trioxide (ATO) in 6 centers. The objectives were to define the impact of ATO on early deaths and relapses and its optimal positioning in the overall treatment strategy. In a 21.5-year period, 324 males and 323 females at a median age of 45.5 years (range, 18.1-91.8; low/intermediate risk, n = 448; high risk, n = 199) were treated. Regimens included frontline all-trans retinoic acid (ATRA)/chemotherapy and maintenance with/without ATO (n = 436), ATRA/IV-ATO/chemotherapy (ATRA/IV-ATO; n = 61), and ATRA/oral-ATO/ascorbic acid with ATO maintenance (oral-AAA; n = 150). The ATRA/chemotherapy group had significantly more frequent early deaths within 60 days (8.3% vs 3.3%; P = .05), inferior 60-day survival (91.7% vs 98.4%/96%; P < .001), inferior 5-year relapse-free survival (RFS; 76.9% vs 92.8%/97.8%; P < .001), and inferior 5-year overall survival (OS; 84.6% vs 91.4%/92.3%; P = .03) than ATO-containing groups (ATRA/IV-ATO and oral-AAA). The addition of oral-ATO maintenance partly mitigated the inferior 5-year RFS resulting from the omission of ATO during induction (ATRA/chemotherapy/non-ATO maintenance vs ATRA/chemotherapy/ATO maintenance vs ATRA/IV-ATO vs oral-AAA, 71.1% vs 87.9% vs 92.8% vs 97.8%; P < .001). The favorable survival impacts of ATO were observed in all risk groups. In conclusion, ATO decreased early deaths, improved 60-day survival, and resulted in significantly superior RFS and OS. This trial was registered at www.clinicaltrials.gov as #NCT04251754.
  18. Shang X, Peng Z, Ye Y, Asan, Zhang X, Chen Y, et al.
    EBioMedicine, 2017 Sep;23:150-159.
    PMID: 28865746 DOI: 10.1016/j.ebiom.2017.08.015
    Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 β-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.
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