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ATAC-seq in 24 GBR lymphoblastoid cell lines

ABSTRACT: Although genome-wide association study is an important tool for linking genetic variation to common complex diseases, it remains difficult to identify the causal variants underlying susceptibility loci. Recent work demonstrated mapping chromatin accessibility across different individuals can be a powerful method for interpreting genetic variant function, existing assays to measure chromatin landscapes (e.g., DNaseI-seq) are labor intensive and require very large numbers of cells preventing their application in real-world settings. This project aims to assess the ability of a novel assay for chromatin accessibility, ATAC-seq, to detect chromatin structure variation among individuals. We will apply ATAC-seq in 24 GBR HapMap lymphoblastoid cell lines (LCLs), which are a model system for studying the function of human genetic variation. We will also employ a novel approach to molecular quantitative trait locus identification which utilizes both population quantitative trait locus and allele-specific signatures, and gives increased mapping power in small sample sizes.This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

INSTRUMENT(S): Illumina HiSeq 2500

ORGANISM(S): Homo sapiens

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PROVIDER: E-ERAD-418 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Single-cell chromatin accessibility data using scATAC-seq

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2015-06-17 | E-GEOD-65360 | biostudies-arrayexpress

91c15f6d-f88e-452e-a58a-77b8a92c1540 - samples

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Chromatin accessibility maps of chronic lymphocytic leukemia identify subtype-specific epigenome signatures and transcription regulatory networks

Project description:Chronic lymphocytic leukemia (CLL) is characterized by substantial clinical heterogeneity, despite relatively few genetic alterations. To provide a basis for studying epigenome deregulation in CLL, we established genome-wide chromatin accessibility maps for 88 CLL samples from 55 patients using the ATAC-seq assay, and we also performed ChIPmentation and RNA-seq profiling for ten representative samples. Based on the resulting dataset, we devised and applied a bioinformatic method that links chromatin profiles to clinical annotations. Our analysis identified sample-specific variation on top of a shared core of CLL regulatory regions. IGHV mutation status â which distinguishes the two major subtypes of CLL â was accurately predicted by the chromatin profiles, and gene regulatory networks inferred for IGHV-mutated vs. IGHV-unmutated samples identified characteristic differences between these two disease subtypes. In summary, we found widespread heterogeneity in the CLL chromatin landscape, established a community resource for studying epigenome deregulation in leukemia, and demonstrated the feasibility of chromatin accessibility mapping in cancer cohorts and clinical research. Genome-wide profiling of chromatin states and gene expression levels in 88 CLL samples from 55 individuals gave rise to 88 ATAC-seq profiles, 40 ChIPmentation profiles (10 samples, each with 3 different antibodies and matched immunoglobulin control), and 10 RNA-seq profiles. Raw sequence data has been deposited at the EBI's European Genome-phenome Archive (EGA) under the accession number EGAS00001001821 (controlled access to protect patient privacy).

2016-06-26 | E-GEOD-81274 | biostudies-arrayexpress

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2022-09-07 | GSE194023 | GEO

scNanoATAC-seq: Long-read Single-cell ATAC-seq by Oxford Nanopore Technologies Sequencing [DataSet1: scNanoATAC-seq]

2022-09-07 | GSE194022 | GEO

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2023-01-10 | GSE199253 | GEO

Individuality and variation of personal regulomes in human T cells

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2015-06-23 | E-GEOD-60682 | biostudies-arrayexpress

The genetic architecture of cell-type-specific cis-regulation [ATAC-seq]

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The IPF-associated variant in MUC5B, rs35705950, resides within an enhancer that is subject to lineage- and disease-dependent epigenetic remodeling

Project description:Genetic polymorphisms account for over 30% of the risk for sporadic pulmonary fibrosis. Yet it remains unknown how the minor variant of rs35705950, the strongest driver of IPF genetic risk, mediates molecular changes to influence IPF development. In the parent publication we use chromatin immunoprecipitation, nuclease sensitivity, nascent transcript analysis, bulk RNA- and ATAC-seq from established cell lines, and finally, paired single-nucleus RNA- and ATAC-seq from IPF patients and controls to demonstrate that the variant rs35705950 resides within a classically defined enhancer of the MUC5B locus.

2020-12-29 | GSE161685 | GEO

Association of common genetic variation with Parkinson’s disease is driven by microglial modulation of Leucine-rich repeat kinase 2 expression

Project description:Previous studies have shown that non-coding genetic variation in the 5’ region of the leucine-rich repeat kinase 2 (LRRK2) gene contributes to Parkinson's disease risk and influences LRRK2 expression, with the risk allele associated with increased expression of LRRK2. To interrogate the biological basis of this expression quantitative trait locus (eQTL), we used single nuclei RNA sequencing of human frontal cortex from donors with known LRRK2 risk genotypes to show that the eQTL propagates via microglia, despite robust expression of LRRK2 in other cell types. Second, we found that chromatin in the 5’ region of LRRK2 is differentially accessible in microglia compared to other brain cell types using single nuclei ATAC sequencing. We confirmed these effects in a microglia cell model derived from human induced pluripotent stem cells (iPSCs) by generating single cell RNA sequencing and bulk ATAC sequencing datasets. Our results demonstrate that gene expression as a quantitative trait may influence specific cell populations, and that non-coding genetic variants that are associated with other diseases may propagate through restricted cell types.

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