ArticleHuman mutation2019
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System.Molecular genetics & genomic medicine · 2026Article
- The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China.Frontiers in genetics · 2026Article
- Association Between KLF1, BCL11A and HBS1L-MYB Polymorphisms and Phenotypes With β-Thalassemia Patients in Hainan.Molecular genetics & genomic medicine · 2025Article
- Rapid detection of genetic modifiers of β-thalassemia based on MALDI-TOF MS.Annals of hematology · 2025Article
- Article
- A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.Human mutation · 2023Article
- Unique Polymorphisms atJournal of personalized medicine · 2021Article
- Establishment and application of a novel method based on single nucleotide polymorphism analysis for detecting β-globin gene cluster deletions.Scientific reports · 2020Article
- [Improved patient safety through a clinical decision support system in laboratory medicine].Der Internist · 2020Review
- LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.Human mutation · 2019Article
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Authors and funding
29 authors at 18 institutions in 2 countries.
Funding
Abstract
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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