{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["ILLUMINA, RNAseq, Illumina HiSeq 2000, Illumina Human Methylation 450k BeadChip"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001001077"],"host":["EGA"],"description":["EGA study EGAS00001001077"],"dataset_title":["BBMRI - BIOS project - Freeze 2 - Bam files","BBMRI - BIOS project - Freeze 2 - Bam files - GoNL samples","BBMRI – BIOS – Freeze 2 – RNA-seq Counts","BBMRI - BIOS project - Freeze 2 - methylation","BBMRI - BIOS project - Freeze 2 - Fastq files","BBMRI - BIOS project - Freeze 2 - Bam files - Imprinting analysis","BBMRI - BIOS project - Freeze 1 - Fastq files","BBMRI - BIOS project - Freeze 2 - Fastq files - GoNL samples","BBMRI - BIOS project - Freeze 2 - Fastq files - unrelated samples","RP3_Freeze_1","BBMRI - BIOS project - Freeze 2 - Bam files - unrelated samples","BBMRI - BIOS project - Freeze 1 - Bam files"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["fg, scale tissue, gyltl1b, like-acetylglucosaminyltransferase, scale, gyltl1b-b, acetylglucosaminyltransferase-like protein, MDDGB6, plant peltate hair, mdc1d, Mbp1, Mbp-1, LARGE, peltate hair., LARGE_HUMAN, LARGE1, froggy, Gyltl1a, BPFD#36, MDC1D, like-glycosyltransferase, enr, MDDGA6, mKIAA0609, scales, KIAA0609, myd, acetylglucosaminyltransferase-like 1A, glycosyltransferase-like protein LARGE1"],"description_synonyms":["Genome-Wide Association, other disease, Ribonucleic, Transcriptome Profile, Genome Wide Association Analysis, Whole Genome Association Study, Gene Expression Profile, Gene, Profiles, DNA Methylations, broad, GWA Studies, Structural, diseases, Roles, Studies, Functional, Gene Products, disease or disorder, Concepts, diseases and disorders, Non Polyadenylated, RNA Gene Products, Genomes., GWA Study, human disease, DNA methylation maintenance, Genomes, Comparative Genomics, Profile, GWA, DNA methylation, DNA Methylomes, Signatures, Genome Wide Association Scan, Genome-Wide Association Studies, non-neoplastic, genetic, Non-Polyadenylated RNA, Study, Expression Signature, Role Concepts, Transcriptomes, disorder, Homo sapiens disease, constitutitional genetic, Methylations, RNA, Genomics, Transcriptome, wide/broad, ribose nucleic acid, Methylomes, Comparative, Expression Profiles, disorders, familial, ribonucleic acids, RNS, medical condition, Functional Genomics, Genome-Wide, Concept, Gene Expression, Role Concept, Genome Wide Association Study, yeast nucleic acid, Expression Signatures, Ribonukleinsaeure, Gene Expression Signatures, Diseases, Role, condition, pentosenucleic acids, Ribonucleic acids, Gene Expression Signature, Whole Genome Association Analysis, Methylome, Expression Profile, Transcriptome Profiles, ribonucleic acid, Acid, Epigenomes, Non Polyadenylated RNA, Non-Polyadenylated, whole genome, Ribonucleic Acid, Genome Wide Association Studies, Phenotypes, disease, wide, Gene Expression Profiles, Association Studies, Structural Genomics, inherited genetic, Association Study, DNA, Signature, hereditary, Methylation, DNA Methylome"],"additional_accession":[]},"is_claimable":false,"name":"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.","description":"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.","dates":{"updated":"2020-06-08 17:51:41"},"accession":"EGAS00001001077","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001003757","EGAD00001003785","EGAD00001003786","EGAD00010001416","EGAD00001001622","EGAD00010000887","EGAD00001003787","EGAD00001003937","EGAD00010001420","EGAD00001001623","EGAD00001003758","EGAD00001003784","EGAC00001000277"]}}