ArticleEuropean journal of human genetics : EJHG2017
A method to customize population-specific arrays for genome-wide association testing.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays.Bioinformatics (Oxford, England) · 2026Article
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- Integrative Multi-omics Analysis of Childhood Aggressive Behavior.Behavior genetics · 2023Article
- A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations.Scientific reports · 2022Article
- Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs.Journal of biochemistry · 2021Article
- Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.Translational psychiatry · 2021Article
- Genetic evidence for a large overlap and potential bidirectional causal effects between resilience and well-being.Neurobiology of stress · 2021Article
- Onset of Preclinical Alzheimer Disease in Monozygotic Twins.Annals of neurology · 2021Article
- Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.International journal of cancer · 2020Article
- The Longitudinal Aging Study Amsterdam: cohort update 2019 and additional data collections.European journal of epidemiology · 2020Article
- The EMIF-AD PreclinAD study: study design and baseline cohort overview.Alzheimer's research & therapy · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
As an example of optimizing population-specific genotyping assays using a whole-genome sequence reference set, we detail the approach that followed to design the Axiom-NL array which is characterized by an improved imputation backbone based on the Genome of the Netherlands (GoNL) reference sequence and, compared with earlier arrays, a more comprehensive inclusion of SNPs on chromosomes X, Y, and the mitochondria. Common variants on the array were selected to be compatible with the Illumina Psych Array and the Affymetrix UK Biobank Axiom array. About 3.5% of the array (23 977 markers) represents SNPs from the GWAS catalog, including SNPs at FTO, APOE, Ion-channels, killer-cell immunoglobulin-like receptors, and HLA. Around 26 000 markers associated with common psychiatric disorders are included, as well as 6705 markers suggested to be associated with fertility and twinning. The platform can thus be used for risk profiling, detection of new variants, as well as ancestry determination. Results of coverage tests in 249 unrelated subjects with GoNL-based sequence data show that after imputation with 1000G as a reference, the median concordance between original and imputed genotypes is above 98%. The median imputation quality R
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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.