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iPSCORE Phenotype Metadata: Element Coordinate Bed Files

dataset
posted on 2024-11-13, 21:07 authored by Timothy ArthurTimothy Arthur, Jennifer NguyenJennifer Nguyen, Benjamin HensonBenjamin Henson, Kelly Frazer

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

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Pancreas cell type-specific regulatory variants and T2D disease risk association

National Institute of Diabetes and Digestive and Kidney Diseases

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Functional Analysis of T2D Associated Non-coding SNPs

National Institute of Diabetes and Digestive and Kidney Diseases

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Fine-mapping and functional analysis of T1D-associated variants

National Institute of Diabetes and Digestive and Kidney Diseases

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Diabetes Research Center (DRC)

National Institute of Diabetes and Digestive and Kidney Diseases

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Cardiac stage-specific regulatory variants and their disease risk association

National Heart Lung and Blood Institute

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REGULATORY GENOMIC STUDIES IN A COHORT OF IPS CELL DERIVED CARDIOMYOCYTES

National Heart Lung and Blood Institute

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Genetic & Social Determinants of Health: Center for Admixture Science and Technology

National Human Genome Research Institute

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Optimizing HaploSeq for whole-genome phased haplotypes in biomedical applications

National Human Genome Research Institute

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Center of Excellence for Stem Cell Genomics – Salk

California Institute for Regenerative Medicine

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Illumina NovaSeq 6000 Sequencing System

Office of the Director

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History

Research Institution(s)

University of California, San Diego

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