Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements

T Amariuta, K Ishigaki, H Sugishita, T Ohta, M Koido… - Nature …, 2020 - nature.com
Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric
genetic studies and limited knowledge of shared causal variants. Leveraging regulatory …

Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation

Y Dai, J Wang, HH Jeong, W Chen, P Jia, Z Zhao - Human genetics, 2021 - Springer
Abstract The coronavirus disease 2019 (COVID-19) is an infectious disease that mainly
affects the host respiratory system with~ 80% asymptomatic or mild cases and~ 5% severe …

[HTML][HTML] Progressive transformation of the HIV-1 reservoir cell profile over two decades of antiviral therapy

X Lian, KW Seiger, EM Parsons, C Gao, W Sun… - Cell Host & Microbe, 2023 - cell.com
HIV-1 establishes a life-long reservoir of virally infected cells which cannot be eliminated by
antiretroviral therapy (ART). Here, we demonstrate a markedly altered viral reservoir profile …

methyl-ATAC-seq measures DNA methylation at accessible chromatin

R Spektor, ND Tippens, CA Mimoso… - Genome …, 2019 - genome.cshlp.org
Chromatin features are characterized by genome-wide assays for nucleosome location,
protein binding sites, three-dimensional interactions, and modifications to histones and …

Comprehensive multiomics analyses reveal pervasive involvement of aberrant cohesin binding in transcriptional and chromosomal disorder of cancer cells

J Wang, R Nakato - Iscience, 2023 - cell.com
Chromatin organization, whose malfunction causes various diseases including cancer, is
fundamentally controlled by cohesin. While cancer cells have been found with mutated or …

Tissue-specific patterns of allelically-skewed DNA methylation

SJ Marzi, EL Meaburn, EL Dempster, K Lunnon… - Epigenetics, 2016 - Taylor & Francis
While DNA methylation is usually thought to be symmetrical across both alleles, there are
some notable exceptions. Genomic imprinting and X chromosome inactivation are two well …

Human-specific lncRNAs contributed critically to human evolution by distinctly regulating gene expression

J Lin, Y Wen, J Tang, X Zhang, H Zhang, H Zhu - bioRxiv, 2023 - biorxiv.org
What genomic sequences make conserved genes generate divergent expression in closely
related species, which may have critically driven human evolution, has puzzled researchers …

Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data

T Qin, C Lee, S Li, RG Cavalcante, P Orchard, H Yao… - Genome Biology, 2022 - Springer
Background Revealing the gene targets of distal regulatory elements is challenging yet
critical for interpreting regulome data. Experiment-derived enhancer-gene links are …

Epigenomic map** in B-cell acute lymphoblastic leukemia identifies transcriptional regulators and noncoding variants promoting distinct chromatin architectures

KR Barnett, RJ Mobley, JD Diedrich, BP Bergeron… - …, 2023 - pmc.ncbi.nlm.nih.gov
SUMMARY B-cell lineage acute lymphoblastic leukemia (B-ALL) is comprised of diverse
molecular subtypes and while transcriptional and DNA methylation profiling of B-ALL …

Whole-genome map** of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature

JA Nakauma-González, M Rijnders, MTW Noordsij… - Cell Genomics, 2024 - cell.com
Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like (APOBEC) enzymes
mutate specific DNA sequences and hairpin-loop structures, challenging the distinction …