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The mission of the BIOS Consortium is to create a large-scale data infrastructure and to bring together BBMRI researchers focusing on integrative omics studies in Dutch Biobanks.

The advent of the genome-wide association study (GWAS) led to the successful identification of thousands of variants that are robustly associated with complex disease phenotypes. Dutch biobanks played a substantial role in these discoveries. For most of these variants, however, the mechanisms through which they contribute to these phenotypes remain unknown. The BIOS Consortium applies a functional genomics approach that integrates genome-wide genetic data with data on the epigenome and transcriptome to elucidate these mechanisms. Over 4000 samples from BBMRI-NL biobanks with in-depth information on disease phenotypes and GWAS data are being enriched with RNA-sequencing and genome-wide DNA methylation data. The same is true for samples with whole-genome sequencing data from GoNL. This unique data infrastructure provides a powerful platform to evaluate key questions in integrative omics from establishing comprehensive eQTL and meQTL catalogues to linking molecular pathways across omics levels to phenotypic outcomes.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001622 Illumina HiSeq 2000 2199
EGAD00001001623 2117
EGAD00001003757 Illumina HiSeq 2000 3686
EGAD00001003758 Illumina HiSeq 2000 3686
EGAD00001003784 Illumina HiSeq 2000 3559
EGAD00001003785 Illumina HiSeq 2000 3559
EGAD00001003786 Illumina HiSeq 2000 420
EGAD00001003787 Illumina HiSeq 2000 420
EGAD00001003937 Illumina HiSeq 2000 131
EGAD00010000887 Illumina Human Methylation 450k BeadChip 3898
EGAD00010001416 Illumina Human Methylation 450k BeadChip 4386
EGAD00010001420 RNAseq 3560
Publications Citations
A SNP panel for identification of DNA and RNA specimens.
BMC Genomics 19: 2018 90
Genome-wide identification of directed gene networks using large-scale population genomics data.
Nat Commun 9: 2018 3097
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation.
Nat Commun 9: 2018 3738
A linear mixed-model approach to study multivariate gene-environment interactions.
Nat Genet 51: 2019 180-186
Skewed X-inactivation is common in the general female population.
Eur J Hum Genet 27: 2019 455-465
Epigenome-wide association study of serum cotinine in current smokers reveals novel genetically driven loci.
Clin Epigenetics 11: 2019 1
DNA methylation signatures of educational attainment.
NPJ Sci Learn 3: 2018 7
The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus.
Hum Genet 138: 2019 375-388
Epigenome-wide Association Study of Attention-Deficit/Hyperactivity Disorder Symptoms in Adults.
Biol Psychiatry 86: 2019 599-607
RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.
BMC Biol 17: 2019 50
Evaluation of commonly used analysis strategies for epigenome- and transcriptome-wide association studies through replication of large-scale population studies.
Genome Biol 20: 2019 235
Genome-wide analysis of constitutional DNA methylation in familial melanoma.
Clin Epigenetics 12: 2020 43
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
Am J Hum Genet 107: 2020 654-669
Correction for both common and rare cell types in blood is important to identify genes that correlate with age.
BMC Genomics 22: 2021 184
Predicting Complex Traits and Exposures From Polygenic Scores and Blood and Buccal DNA Methylation Profiles.
Front Psychiatry 12: 2021 688464
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation.
Nat Genet 53: 2021 1311-1321
Identical twins carry a persistent epigenetic signature of early genome programming.
Nat Commun 12: 2021 5618
DNA methylation in peripheral tissues and left-handedness.
Sci Rep 12: 2022 5606
Limited evidence for blood eQTLs in human sexual dimorphism.
Genome Med 14: 2022 89
Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations.
HGG Adv 3: 2022 100133
Lipid-induced transcriptomic changes in blood link to lipid metabolism and allergic response.
Nat Commun 14: 2023 544
Effects of smoking on genome-wide DNA methylation profiles: A study of discordant and concordant monozygotic twin pairs.
Elife 12: 2023 e83286
Genome-Wide DNA Methylation Profiles in Whole-Blood and Buccal Samples-Cross-Sectional, Longitudinal, and across Platforms.
Int J Mol Sci 24: 2023 14640
Comprehensive evaluation of smoking exposures and their interactions on DNA methylation.
EBioMedicine 100: 2024 104956
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs.
Genome Biol 25: 2024 29