Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Background DNA methylation is a dynamic epigenetic mechanism that occurs at cytosine-
phosphate-guanine dinucleotide (CpG) sites. Epigenome-wide association studies (EWAS) …

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 …

Methylation of cytosines is a prototypic epigenetic modification of the DNA. It has been
implicated in various regulatory mechanisms across the animal kingdom and particularly in …

Bronchiolitis is the most common lower respiratory infection in infants, yet its pathobiology
remains unclear. Here we present blood DNA methylation data from 625 infants hospitalized …

Abstract Attention-Deficit/Hyperactivity Disorder (ADHD) is a prevalent psychiatric condition
characterized by developmentally inappropriate symptoms of inattention and/or …

Prenatal maternal stressful life events are associated with adverse neurodevelopmental
outcomes in offspring. Biological mechanisms underlying these associations are largely …

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

Identifying genetic variants that are associated with variation in DNA methylation, an
analysis commonly referred to as methylation quantitative trait locus (meQTL) mapping, is an …

Background Growing evidence has demonstrated that DNA methylation (DNAm) plays an
important role in Alzheimer's disease (AD) and that DNAm differences can be detected in the …