Genetic impacts on DNA methylation: research findings and future perspectives
S Villicaña, JT Bell - Genome biology, 2021 - Springer
Multiple recent studies highlight that genetic variants can have strong impacts on a
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …
Associating cellular epigenetic models with human phenotypes
T Lappalainen, JM Greally - Nature Reviews Genetics, 2017 - nature.com
Epigenetic association studies have been carried out to test the hypothesis that
environmental perturbations trigger cellular reprogramming, with downstream effects on …
environmental perturbations trigger cellular reprogramming, with downstream effects on …
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …
specific characterization of DNAm is needed to understand its role in gene regulation and its …
Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder
JM LaSalle - Molecular psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …
outcomes in children with a commonality in deficits in social communication and language …
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns
Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms
allowing integration of genetic and environmental factors to shape cellular function. While …
allowing integration of genetic and environmental factors to shape cellular function. While …
Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation
LT Husquin, M Rotival, M Fagny, H Quach, N Zidane… - Genome biology, 2018 - Springer
Background DNA methylation is influenced by both environmental and genetic factors and is
increasingly thought to affect variation in complex traits and diseases. Yet, the extent of …
increasingly thought to affect variation in complex traits and diseases. Yet, the extent of …
Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Studies on genetic–epigenetic interactions, including the mapping of methylation
quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation …
quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation …
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Long-read HiFi genome sequencing allows for accurate detection and direct phasing of
single nucleotide variants, indels, and structural variants. Recent algorithmic development …
single nucleotide variants, indels, and structural variants. Recent algorithmic development …
Crosstalk of genetic variants, allele-specific DNA methylation, and environmental factors for complex disease risk
Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …
of phenotype-associated DNA sequence variants for potential explanations of inter …
Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci
V Onuchic, E Lurie, I Carrero, P Pawliczek, RY Patel… - Science, 2018 - science.org
INTRODUCTION A majority of imbalances in DNA methylation between homologous
chromosomes in humans are sequence-dependent; the DNA sequence differences between …
chromosomes in humans are sequence-dependent; the DNA sequence differences between …