ArticleOrphanet journal of rare diseases2022
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.
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Who cites it
41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Genetic Landscape of Monogenic Parkinson's Disease in the African Population-A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2026Pooled it
- Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.Nature genetics · 2024Pooled it
- Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review.Frontiers in genetics · 2023Pooled it
- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.Molecular genetics & genomic medicine · 2026Article
- Article
- Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.European journal of human genetics : EJHG · 2026Article
- Actionable Pharmacogenomics and Essential Medicines: An Analysis of WHO and African Lists for Safer and Efficacious Drug Use.Clinical pharmacology and therapeutics · 2026Review
- Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.Molecular genetics & genomic medicine · 2026Article
- Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.medRxiv : the preprint server for health sciences · 2026Article
- Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.Nature reviews. Neurology · 2025Review
- A map of blood regulatory variation in South Africans enables GWAS interpretation.Nature genetics · 2025Article
- Neurodevelopmental disorders at Chris Hani Baragwanath Academic Hospital: a 4-year retrospective database review.BMJ paediatrics open · 2025Article
- Ancestry gaps in cardiovascular GWAS: a multi-database review of African representation in genomic studies.Frontiers in genetics · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study.Frontiers in genetics · 2025Article
- Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.Molecular genetics & genomic medicine · 2024Article
- Review
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- An assessment of the genomic structural variation landscape in Sub-Saharan African populations.Research square · 2024Article
Corrections and comments
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Authors and funding
13 authors at 10 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more difficult in Africa and for the African diaspora. It increases chances for false positives with variants being misclassified as pathogenic due to their novelty or rarity. We can increase African genomic data by (1) making consent for sharing aggregate frequency data an essential component of research toolkit; (2) encouraging investigators with African data to share available data through public resources such as gnomAD, AVGD, ClinVar, DECIPHER and to use MatchMaker Exchange; (3) educating African research participants on the meaning and value of sharing aggregate frequency data; and (4) increasing funding to scale-up the production of African genomic data that will be more representative of the geographical and ethno-linguistic variation on the continent. The RDWG of H3Africa is hereby calling to action because this underrepresentation accentuates the health disparities. Applying the NGS to shorten the diagnostic odyssey or to guide therapeutic options for rare diseases will fully work for Africans only when public repositories include sufficient data from African subjects.
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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.