397 results found
    1. Genetics and Genomics

    Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures

    Xinchen Wang et al.
    Epigenomic signatures overlapping disease-associated variants from genome-wide association studies help prioritize new variants in sub-threshold loci whose biological relevance is experimentally confirmed.
    1. Genetics and Genomics
    2. Neuroscience

    Epigenomic landscapes of retinal rods and cones

    Alisa Mo et al.
    Genome-wide analysis of DNA methylation and accessible chromatin shows that retinal rods and cones have distinct epigenomic features that reflect differences in their development and function.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Population scale mapping of transposable element diversity reveals links to gene regulation and epigenomic variation

    Tim Stuart et al.
    Fine mapping of transposable element presence/absence variation amongst 216 Arabidopsis strains uncovers widespread novel genetic diversity that underlies differences in transcription and DNA methylation patterns.
    1. Cancer Biology
    2. Genetics and Genomics

    Mismatch repair-signature mutations activate gene enhancers across human colorectal cancer epigenomes

    Stevephen Hung et al.
    Non-coding mutations in microsatellite-instable (MSI) colorectal tumors are prevalent and activate cancer-specific enhancers, thereby disrupting gene expression control.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

    Agata Wesolowska-Andersen et al.
    Combination of deep learning models trained on tissue-specific genomic data and fine-mapping approaches supports efforts to identify causal variants and mechanisms at GWAS loci.
    1. Chromosomes and Gene Expression
    2. Neuroscience

    Transcriptional and epigenomic landscapes of CNS and non-CNS vascular endothelial cells

    Mark F Sabbagh et al.
    Genome-wide integration of transcriptome, accessible chromatin, and DNA methylome data from vascular endothelial cells lays the foundation for understanding the gene regulatory circuits that generate organ-specific vascular specialization.
    1. Genetics and Genomics

    Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

    Matthias Thurner et al.
    Human pancreatic islet high-resolution chromatin state maps generated from DNA methylation, open chromatin and ChIP-seq mark data facilitate the characterisation of regulatory mechanisms at type 2 diabetes genome-wide association study loci.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Histone gene replacement reveals a post-transcriptional role for H3K36 in maintaining metazoan transcriptome fidelity

    Michael P Meers et al.
    Post-translational modification of histone H3K36 is not required to suppress cryptic transcription initiation or to include alternative exons in Drosophila; instead it promotes expression of active genes by stimulating polyadenylation.
    1. Genetics and Genomics
    2. Stem Cells and Regenerative Medicine

    Global DNA methylation remodeling during direct reprogramming of fibroblasts to neurons

    Chongyuan Luo et al.
    Induced neuronal cells acquire epigenomic signatures specific to matured neurons.
    1. Plant Biology

    The Arabidopsis thaliana mobilome and its impact at the species level

    Leandro Quadrana et al.
    Population genomics in Arabidopsis thaliana uncovers an extensive repertoire of active transposable element families at the species level and reveals their importance as a source of rare alleles with large effects.

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