[HTML][HTML] Open problems in human trait genetics
Genetic studies of human traits have revolutionized our understanding of the variation
between individuals, and yet, the genetics of most traits is still poorly understood. In this …
between individuals, and yet, the genetics of most traits is still poorly understood. In this …
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways
Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …
health disparities. We propose PolyPred, a method that improves cross-population …
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies
KP Lopes, GJL Snijders, J Humphrey, A Allan… - Nature …, 2022 - nature.com
Microglia have emerged as important players in brain aging and pathology. To understand
how genetic risk for neurological and psychiatric disorders is related to microglial function …
how genetic risk for neurological and psychiatric disorders is related to microglial function …
[HTML][HTML] Multi-omic insights into Parkinson's Disease: From genetic associations to functional mechanisms
Abstract Genome-Wide Association Studies (GWAS) have elucidated the genetic
components of Parkinson's Disease (PD). However, because the vast majority of GWAS …
components of Parkinson's Disease (PD). However, because the vast majority of GWAS …
[HTML][HTML] Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
KG Aragam, T Jiang, A Goel, S Kanoni, BN Wolford… - Nature …, 2022 - nature.com
The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …
The missing link between genetic association and regulatory function
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …
widely assumed that such alleles exert small regulatory effects on the expression of cis …
[HTML][HTML] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
[HTML][HTML] The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force
QS Wang, R Edahiro, H Namkoong… - Nature …, 2022 - nature.com
Abstract Coronavirus disease 2019 (COVID-19) is a recently-emerged infectious disease
that has caused millions of deaths, where comprehensive understanding of disease …
that has caused millions of deaths, where comprehensive understanding of disease …