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 …
[HTML][HTML] Common disease is more complex than implied by the core gene omnigenic model
The evidence that most adult-onset common diseases have a polygenic genetic architecture
fully consistent with robust biological systems supported by multiple back-up mechanisms is …
fully consistent with robust biological systems supported by multiple back-up mechanisms is …
A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …
variants contribute to gene expression, have been performed in heterogeneous brain …
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 …
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
JE Horowitz, JA Kosmicki, A Damask, D Sharma… - Nature …, 2022 - nature.com
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells
via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID …
via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID …
Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
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 …