ArticleNature genetics2011
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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Who cites it
70 citing papers in PubMed, 160 citations in OpenAlex.
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- NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing.The Journal of molecular diagnostics : JMD · 2022Article
- J'Accuse….. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing.Human genomics · 2022Article
- The hemoglobinopathies, molecular disease mechanisms and diagnostics.International journal of laboratory hematology · 2022Review
- Prime Editor 3 Mediated Beta-Thalassemia Mutations of theInternational journal of molecular sciences · 2022Article
- Breakpoint characterization of a rare alphaInternational journal of laboratory hematology · 2021Article
- The importance of adherence to international standards for depositing open data in public repositories.BMC research notes · 2021Article
- Strategies to improve pharmacogenomic-guided treatment options for patients with β-hemoglobinopathies.Expert review of hematology · 2021Article
- Compounded with hemoglobin Port Phillip and -αMolecular genetics & genomic medicine · 2021Article
- A unified model of human hemoglobin switching through single-cell genome editing.Nature communications · 2021Article
- Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.Molecular biology reports · 2021Article
- Genome-based therapeutic interventions for β-type hemoglobinopathies.Human genomics · 2021Review
- Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations.Nucleic acids research · 2021Article
- Modulating gene regulation to treat genetic disorders.Nature reviews. Drug discovery · 2020Review
- Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.American journal of human genetics · 2020Article
- Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.Journal of clinical pathology · 2020Article
- Non-deletional alpha thalassaemia: a review.Orphanet journal of rare diseases · 2020Review
- LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.Human mutation · 2019Article
10 more citing papers are in PubMed but not listed here.
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Authors and funding
51 authors at 20 institutions in 13 countries.
Funding
Abstract
We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.