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LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies

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机构： [1]Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong, China [2]Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China [3]Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China [4]DIAN Diagnostics, Hangzhou, China [5]Institute for Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China [6]BGI Clinical Laboratories‐Shenzhen, Shenzhen, Guangdong, China [7]Department of Hematopathology, 303rd Hospital of the People’s Liberation Army, Nanning, Guangxi, China [8]Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China [9]Genetic Diagnosis Center, First People’s Hospital of Yunnan Province, Kunming, Yunnan, China [10]School of Basic Medicine, Hainan Medical University, Haikou, Hainan, China [11]Department of Pediatrics, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China [12]Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China [13]Department of Pediatrics, Maternity and Child Health Care Hospital of Foshan City, Foshan, Guangdong, China [14]Department of Clinical Laboratory, Guilin Women and Children health care hospital, Guilin, Guangxi, China [15]Department of Clinical Laboratory, Zhuhai Municipal Maternity and Child Healthcare Hospital, Zhuhai, Guangdong, China [16]Department of Clinical Laboratory, Maternal and Child Health Hospital in Meizhou, Meizhou, Guangdong, China [17]Department of Prenatal Diagnosis Center, Maternal and Child Health Hospital, Dongguan, Guangdong, China [18]Department of Clinical Laboratory, Baise Women and Children Care Hospital, Baise, Guangxi, China [19]Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital, Qinzhou, Guangxi, China [20]Center For Prenatal Diagnosis Shaoguan, Shaoguan Municipal Maternity and Child Healthcare Hospital, Guangdong, China [21]Department of Clinical Laboratory, The People’s Hospital of Yunfu City, Yunfu, Guangdong, China [22]Department of Clinical Laboratory, Pingguo Women and Children Care Hospital, Baise, Guangxi, China [23]Beijing GeneDock Technology Company, Beijing, China [24]School of Basic Medical Sciences, Zhejiang University, Hangzhou, Zhejiang, China [25]Center for Genetic & Genomic Medicine, JamesWatson Institute of Genome Sciences, Zhejiang University Medical School 1st Affiliated Hospital, Hangzhou,Zhejiang, China

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关键词： clinical genotyping DASH database hemoglobinopathy LOVD molecular screening

摘要：

Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples an online auxiliary diagnosis and at-risk assessment system for hemoglobinopathies (DASH). The database was integrated into the Leiden Open Variation Database (LOVD), in which we included all reported variants focusing on a Chinese population by literature peer review-curation and existing databases, such as HbVar and IthaGenes. In addition, comprehensive mutation data generated by high-throughput sequencing of 2,087 hemoglobinopathy patients and 20,222 general individuals from southern China were also incorporated into the database. These sequencing data enabled us to observe disease-causing and modifier variants responsible for hemoglobinopathies in bulk. Currently, 371 unique variants have been recorded; 265 of 371 were described as disease-causing variants, whereas 106 were defined as modifier variants, including 34 functional variants identified by a quantitative trait association study of this high-throughput sequencing data. Due to the availability of a comprehensive phenotype-genotype data set, DASH has been established to automatically provide accurate suggestions on diagnosis and genetic counseling of hemoglobinopathies. LOVD-DASH will inspire us to deal with clinical genotyping and molecular screening for other Mendelian disorders.

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出版当年[2019]版：

大类 | 2 区医学

小类 | 2 区遗传学

最新[2025]版：

大类 | 2 区医学

小类 | 2 区遗传学

JCR分区：

出版当年[2018]版：

Q1 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY

影响因子： 3.3 最新[2023版] 4.1 最新五年平均 4.453 出版当年[2018版] 5.002 出版当年五年平均 5.359 出版前一年[2017版] 4.124 出版后一年[2019版]

第一作者：

第一作者机构： [1]Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong, China [2]Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China [3]Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China

共同第一作者：

通讯作者：

通讯机构： [1]Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong, China [2]Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China [3]Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China [24]School of Basic Medical Sciences, Zhejiang University, Hangzhou, Zhejiang, China [25]Center for Genetic & Genomic Medicine, JamesWatson Institute of Genome Sciences, Zhejiang University Medical School 1st Affiliated Hospital, Hangzhou,Zhejiang, China [*1]Center for Genetic and Genomic Medicine, Zhejiang University School of Medicine First Affiliated Hospital, 79 Qingchun Road, 310003 Hangzhou, Zhejiang, China. [*2]Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, 1838 Guangzhou Avenue North, 510515 Guangzhou, China.

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LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies

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