iPSCORE Phenotype Metadata: Element Coordinate Bed Files
This directory contains 6 files for the genomic coordinates in the hg38 build for the genes, ATAC-seq peaks, and H3K27ac ChIP-seq peaks from three tissues from the iPSCORE Collection; induced pluripotent stem cells (iPSCs), iPSC-derived cardiovascular progenitor cells (CVPCs), and iPSC-derived pancreatic progenitor cells (PPCs).
Each file has a BED-like format. The five ATAC-seq and H3K27ac ChIP-seq peak files have a [tissue_phenotype_peaks.bed] labeling convention and have the same columns, including Chromosome, Start, End describing the genomic coordinates, Element_ID the identifier for the ATAC-seq or ChIP-seq peak, and Expressed TRUE/FALSE based on whether the peak is considered accessible/acetylated after filtering. To obtain the elements tested for QTLs, rows can be filtered by Expressed == "TRUE".
Since gene coordinates are fixed, the gene_info.txt.gz file contains information about which genes were considered expressed for all three tissues. The first three columns are the chromsome, start and end Gencode hg38 coordinates, the strand, gene ID and gene name are reported in the next three columns. The last three columns are iPSC_Expressed, CVPC_Expressed, and PPC_Expressed and indicate (TRUE/FALSE) whether the gene is expressed in the corresponding tissue and tested for QTLs.
Funding
San Diego Biomedical Informatics Education & Research (SABER)
United States National Library of Medicine
Find out more...Pancreas cell type-specific regulatory variants and T2D disease risk association
National Institute of Diabetes and Digestive and Kidney Diseases
Find out more...Functional Analysis of T2D Associated Non-coding SNPs
National Institute of Diabetes and Digestive and Kidney Diseases
Find out more...Fine-mapping and functional analysis of T1D-associated variants
National Institute of Diabetes and Digestive and Kidney Diseases
Find out more...Diabetes Research Center (DRC)
National Institute of Diabetes and Digestive and Kidney Diseases
Find out more...Cardiac stage-specific regulatory variants and their disease risk association
National Heart Lung and Blood Institute
Find out more...REGULATORY GENOMIC STUDIES IN A COHORT OF IPS CELL DERIVED CARDIOMYOCYTES
National Heart Lung and Blood Institute
Find out more...Genetic & Social Determinants of Health: Center for Admixture Science and Technology
National Human Genome Research Institute
Find out more...Optimizing HaploSeq for whole-genome phased haplotypes in biomedical applications
National Human Genome Research Institute
Find out more...Center of Excellence for Stem Cell Genomics – Salk
California Institute for Regenerative Medicine
Find out more...History
Research Institution(s)
University of California, San DiegoContact email
tdarthur40@gmail.comAssociated Preprint DOI
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