[HTML][HTML] A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
S Ramdas, J Judd, SE Graham, S Kanoni… - The American Journal of …, 2022 - cell.com
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic
associations into biological insights. Here, we integrate a large GWAS on blood lipids …
associations into biological insights. Here, we integrate a large GWAS on blood lipids …
[HTML][HTML] Seeing the forest through the trees: prioritising potentially functional interactions from Hi-C
Eukaryotic genomes are highly organised within the nucleus of a cell, allowing widely
dispersed regulatory elements such as enhancers to interact with gene promoters through …
dispersed regulatory elements such as enhancers to interact with gene promoters through …
Parsing the functional impact of noncoding genetic variants in the brain epigenome
SK Powell, C O'Shea, KJ Brennand, S Akbarian - Biological psychiatry, 2021 - Elsevier
The heritability of common psychiatric disorders has motivated global efforts to identify risk-
associated genetic variants and elucidate molecular pathways connecting DNA sequence to …
associated genetic variants and elucidate molecular pathways connecting DNA sequence to …
[HTML][HTML] Three-dimensional chromatin architecture datasets for aging and Alzheimer's disease
Recently, increasing studies are indicating a close association between dysregulated
enhancers and neurodegenerative diseases, such as Alzheimer's disease (AD). However …
enhancers and neurodegenerative diseases, such as Alzheimer's disease (AD). However …
[HTML][HTML] Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters
Background There is widespread interest in the three-dimensional chromatin conformation
of the genome and its impact on gene expression. However, these studies frequently do not …
of the genome and its impact on gene expression. However, these studies frequently do not …
[HTML][HTML] Juvenile idiopathic arthritis-associated genetic loci exhibit spatially constrained gene regulatory effects across multiple tissues and immune cell types
Juvenile idiopathic arthritis (JIA) is an autoimmune, inflammatory joint disease with complex
genetic etiology. Previous GWAS have found many genetic loci associated with JIA …
genetic etiology. Previous GWAS have found many genetic loci associated with JIA …
[HTML][HTML] Connecting high-resolution 3D chromatin organization with epigenomics
The resolution of chromatin conformation capture technologies keeps increasing, and the
recent nucleosome resolution chromatin contact maps allow us to explore how fine-scale 3D …
recent nucleosome resolution chromatin contact maps allow us to explore how fine-scale 3D …
[HTML][HTML] Genome-wide expression QTL mapping reveals the highly dynamic regulatory landscape of a major wheat pathogen
LN Abraham, D Croll - BMC biology, 2023 - Springer
Background In agricultural ecosystems, outbreaks of diseases are frequent and pose a
significant threat to food security. A successful pathogen undergoes a complex and well …
significant threat to food security. A successful pathogen undergoes a complex and well …
Functional genomics in autoimmune diseases
J Ding, A Frantzeskos, G Orozco - Human Molecular Genetics, 2020 - academic.oup.com
Associations between genetic loci and increased susceptibility to autoimmune disease have
been well characterized, however, translating this knowledge into mechanistic insight and …
been well characterized, however, translating this knowledge into mechanistic insight and …
[HTML][HTML] Machine learning identifies six genetic variants and alterations in the heart atrial appendage as key contributors to PD risk predictivity
Parkinson's disease (PD) is a complex neurodegenerative disease with a range of causes
and clinical presentations. Over 76 genetic loci (comprising 90 SNPs) have been associated …
and clinical presentations. Over 76 genetic loci (comprising 90 SNPs) have been associated …