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 …

Epigenetic association studies have been carried out to test the hypothesis that
environmental perturbations trigger cellular reprogramming, with downstream effects on …

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 …

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms
allowing integration of genetic and environmental factors to shape cellular function. While …

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 …

Studies on genetic–epigenetic interactions, including the mapping of methylation
quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation …

Long-read HiFi genome sequencing allows for accurate detection and direct phasing of
single nucleotide variants, indels, and structural variants. Recent algorithmic development …

Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …

INTRODUCTION A majority of imbalances in DNA methylation between homologous
chromosomes in humans are sequence-dependent; the DNA sequence differences between …