ArticleEBioMedicine2017
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Open access · goldAbstract readMulticenter Study
In one paragraph
Article in EBioMedicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 2 pooled it
5.9field-weighted citation impact, top 3% of its field
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
86 citing papers in PubMed, 2 syntheses or guidelines pooled it, 197 citations in OpenAlex.
- Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.Orphanet journal of rare diseases · 2025Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia.Nature genetics · 2026Article
- Performance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays.Wiener klinische Wochenschrift · 2026Article
- A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China.International journal of neonatal screening · 2026Article
- Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment.Journal of clinical laboratory analysis · 2026Review
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- An Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.Journal of clinical laboratory analysis · 2026Article
- Article
- A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia.Frontiers in genetics · 2026Article
- A novel polyadenylation signal variant NM_000517.6 (Frontiers in medicine · 2026Article
- Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.Frontiers in genetics · 2026Review
- The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China.Frontiers in genetics · 2026Article
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
- Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.Annals of hematology · 2025Article
- Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.Annals of hematology · 2025Review
- Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.Annals of hematology · 2025Article
- Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants.Journal of clinical laboratory analysis · 2025Article
- Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.Archives of public health = Archives belges de sante publique · 2025Article
- Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.NPJ genomic medicine · 2025Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
57 authors at 19 institutions in 3 countries.
Xuan ShangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Zhiyu PengBGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China.
Yuhua YeDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
AsanTianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
Xinhua ZhangDepartment of Hematology, 303rd Hospital of the People's Liberation Army, Nanning, Guangxi, China.
Yan ChenThe Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guizhou, China.
Baosheng ZhuGenetic Diagnosis Center, First People's Hospital of Yunnan Province, Medical School of Kunming University of Science and Technology, Kunming, Yunnan, China.
Wangwei CaiDepartment of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, Hainan, China.
Shaoke ChenDepartment of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China.
Ren CaiDepartment of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
Xiaoling GuoMaternity and Child Health Care Hospital of Foshan City, Foshan, Guangdong, China.
Chonglin ZhangGuilin Women and Children health care hospital, Guilin, Guangxi, China.
Yuqiu ZhouDepartment of Clinical Laboratory, Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai Institute of Medical Genetics, Zhuhai, Guangdong, China.
Shuodan HuangMaternal and Child Health Hospital in Meizhou, Meizhou, Guangdong, China.
Yanhui LiuDepartment of Prenatal Diagnosis Center, Dong Guan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
Biyan ChenBaise Women and Children Care Hospital, Baise, Guangxi, China.
Shanhuo YanGenetic Laboratory, Qinzhou Maternaland Child Health Hospital, Qingzhou, Guangxi, China.
Yajun ChenWomen and Children's Health Hospital of Shaoguan, Shaoguan, Guangdong, China.
Hongmei DingDepartment of Gynecology and Obstetrics, The People's Hospital of Yunfu City, Yunfu, Guangdong, China.
Xiaolin YinDepartment of Hematology, 303rd Hospital of the People's Liberation Army, Nanning, Guangxi, China.
Liusong WuThe Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guizhou, China.
Jing HeGenetic Diagnosis Center, First People's Hospital of Yunnan Province, Medical School of Kunming University of Science and Technology, Kunming, Yunnan, China.
Dongai HuangDepartment of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, Hainan, China.
Sheng HeDepartment of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China.
Tizhen YanDepartment of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
Xin FanDepartment of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China.
Yuehong ZhouPingguo Women and Children Care Hospital, Baise, Guangxi, China.
Xiaofeng WeiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Sumin ZhaoTianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
Decheng CaiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Fengyu GuoTianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
Qianqian ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Yun LiBGI Clinical Laboratories-Shenzhen, BGI-Shenzhen, Shenzhen, China.
Xuelian ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Haorong LuBGI Clinical Laboratories-Shenzhen, BGI-Shenzhen, Shenzhen, China.
Huajie HuangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Junfu GuoTianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
Fei ZhuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Yuan YuanTianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
Li ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Na LiuBGI Clinical Laboratories-Shenzhen, BGI-Shenzhen, Shenzhen, China.
Zhiming LiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Hui JiangBGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China.
Qiang ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Yijia ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Wan Khairunnisa Wan JuhariDepartment of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
Sarifah HanafiDepartment of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
Wanjun ZhouDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Fu XiongDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China.
Huanming YangBGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China; James D. Watson Institute of Genome Sciences, Hangzhou, Zhejiang, China.
Jian WangBGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China; James D. Watson Institute of Genome Sciences, Hangzhou, Zhejiang, China.
Bin Alwi ZilfalilDepartment of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
Ming QiSchool of Basic Medical Sciences, Zhejiang University, Hangzhou, Zhejiang, China; Center for Genetic & Genomic Medicine, Zhejiang University Medical School 1st Affiliated Hospital, James Watson Institute of Genome Sciences, Hangzhou, Zhejiang, China.
Yaping YangDepartments of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.
Ye YinBGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China.
Mao MaoBGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China. Electronic address: maomao@genomics.cn.
Xiangmin XuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China. Electronic address: xixm@smu.edu.cn.
BGI Group (China) · CNSouthern Medical University · CNAffiliated Hospital of Zunyi Medical College · CNGuangxi Maternal and Child Health Hospital · CNKey Laboratory of Guangdong Province · CNUniversiti Sains Malaysia · MY303 Hospital of People's Liberation Army · CNFirst People's Hospital of Yunnan Province · CNHainan Medical College Hospital · CNLiuzhou Maternal and Child Health Hospital · CNTianjin Medical University · CNWeihai Maternal and Child Health Hospital · CNBaise University · CNBaylor College of Medicine · USDongguan People’s Hospital · CNFoshan Maternity and Child Health Care Hospital · CNMeizhou City People's Hospital · CNQinzhou Maternity and Child Health Care Hospital · CNZhejiang University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
Indexed as
Genetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingGenotyping TechniquesHigh-Throughput Nucleotide SequencingAdolescentAdultCase-Control StudiesChinaErythrocyte IndicesGenetic Carrier ScreeningGenetic VariationGenotypeGeography, MedicalHemoglobinopathiesHemoglobins, AbnormalHemoglobins, AbnormalClinical genotypingHemoglobinopathyMolecular screeningNext-generation sequencing
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