The single-cell eQTLGen consortium
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …
RNA-sequencing data have identified the downstream expression effects of disease …
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
INTRODUCTION Across human societies and in both sexes, some 2 to 10% of individuals
report engaging in sex with same-sex partners, either exclusively or in addition to sex with …
report engaging in sex with same-sex partners, either exclusively or in addition to sex with …
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with human complex traits. However, the genes or functional DNA elements …
associated with human complex traits. However, the genes or functional DNA elements …
A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles
NYA Sey, B Hu, W Mah, H Fauni, JC McAfee… - Nature …, 2020 - nature.com
Most risk variants for brain disorders identified by genome-wide association studies reside in
the noncoding genome, which makes deciphering biological mechanisms difficult. A …
the noncoding genome, which makes deciphering biological mechanisms difficult. A …
Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets
Importance Substantial genome-wide association study (GWAS) work in Parkinson disease
(PD) has led to the discovery of an increasing number of loci shown reliably to be associated …
(PD) has led to the discovery of an increasing number of loci shown reliably to be associated …
Quantifying genetic effects on disease mediated by assayed gene expression levels
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
[HTML][HTML] Emerging trends in advanced translational applications of silver nanoparticles: a progressing dawn of nanotechnology
Nanoscience has emerged as a fascinating field of science, with its implementation in
multiple applications in the form of nanotechnology. Nanotechnology has recently been …
multiple applications in the form of nanotechnology. Nanotechnology has recently been …
A cross-platform approach identifies genetic regulators of human metabolism and health
In cross-platform analyses of 174 metabolites, we identify 499 associations (P< 4.9× 10− 10)
characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and …
characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and …
Genetic predisposition to mosaic Y chromosome loss in blood
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
[HTML][HTML] From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries
B Li, MD Ritchie - Frontiers in Genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …