From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
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 …
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 …
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …
understand mechanisms underpinning gene regulation and disease. In the present study …
SeSAMe: reducing artifactual detection of DNA methylation by Infinium BeadChips in genomic deletions
We report a new class of artifacts in DNA methylation measurements from Illumina
HumanMethylation450 and MethylationEPIC arrays. These artifacts reflect failed …
HumanMethylation450 and MethylationEPIC arrays. These artifacts reflect failed …
An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome
We report a multi-omic resource generated by applying quantitative trait locus (xQTL)
analyses to RNA sequence, DNA methylation and histone acetylation data from the …
analyses to RNA sequence, DNA methylation and histone acetylation data from the …
The role of regulatory variation in complex traits and disease
FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …
in traits ranging from growth and fitness in simple organisms to disease in humans …
Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability
Abstract N 6-methyladenosine (m6A) plays important roles in regulating messenger RNA
processing. Despite rapid progress in this field, little is known about the genetic …
processing. Despite rapid progress in this field, little is known about the genetic …
Systematic identification of genetic influences on methylation across the human life course
Background The influence of genetic variation on complex diseases is potentially mediated
through a range of highly dynamic epigenetic processes exhibiting temporal variation during …
through a range of highly dynamic epigenetic processes exhibiting temporal variation during …
The genetics of transcription factor DNA binding variation
Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …