ArticleEuropean journal of human genetics : EJHG2021
A comparison of genotyping arrays.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.
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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
57 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program.Journal of the American Medical Informatics Association : JAMIA · 2024Pooled it
- A systematic review of analytical methods used in genetic association analysis of the X-chromosome.Briefings in bioinformatics · 2022Pooled it
- Trial
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- A Whole-Genome Sequence Genome-Wide Association Study inOphthalmology science · 2026Article
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- Integrating multi-omics data for next-generation cancer research and precision medicine.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- Skim-sequencing for genomic selection in wheat: a comparison of marker platforms.The plant genome · 2026Article
- Development of liquid chip for functional genes in foxtail millet (Frontiers in plant science · 2026Article
- Multi-omics Data Integration.Advances in experimental medicine and biology · 2026Review
- Genomic platform specific polygenic risk scores impact breast cancer risk stratification.Communications medicine · 2025Article
- Recommendations for responsible use of population descriptors in polygenic risk score development.Nature genetics · 2025Review
- Genetics of Common Obesity in Children and Adolescents.Annals of the New York Academy of Sciences · 2025Review
- Regulatory polymorphisms ofJournal for immunotherapy of cancer · 2025Article
- Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.Human genetics · 2025Article
- A burden of rare copy number variants in obsessive-compulsive disorder.Molecular psychiatry · 2025Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Benchmarking for genotyping and imputation using degraded DNA for forensic applications across diverse populations.Forensic science international. Genetics · 2025Article
- A genome-wide association study of European advanced cancer patients treated with opioids identifies regulatory variants on chromosome 20 associated with pain intensity.European journal of pain (London, England) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Array technology to genotype single-nucleotide variants (SNVs) is widely used in genome-wide association studies (GWAS), clinical diagnostics, and linkage studies. Arrays have undergone a tremendous growth in both number and content over recent years making a comprehensive comparison all the more important. We have compared 28 genotyping arrays on their overall content, genome-wide coverage, imputation quality, presence of known GWAS loci, mtDNA variants and clinically relevant genes (i.e., American College of Medical Genetics (ACMG) actionable genes, pharmacogenetic genes, human leukocyte antigen (HLA) genes and SNV density). Our comparison shows that genome-wide coverage is highly correlated with the number of SNVs on the array but does not correlate with imputation quality, which is the main determinant of GWAS usability. Average imputation quality for all tested arrays was similar for European and African populations, indicating that this is not a good criterion for choosing a genotyping array. Rather, the additional content on the array, such as pharmacogenetics or HLA variants, should be the deciding factor. As the research question of a study will in large part determine which class of genes are of interest, there is not just one perfect array for all different research questions. This study can thus help as a guideline to determine which array best suits a study's requirements.
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Registered trials
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.