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 …
Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
FcγR-mediated SARS-CoV-2 infection of monocytes activates inflammation
C Junqueira, Â Crespo, S Ranjbar, LB De Lacerda… - Nature, 2022 - nature.com
SARS-CoV-2 can cause acute respiratory distress and death in some patients. Although
severe COVID-19 is linked to substantial inflammation, how SARS-CoV-2 triggers …
severe COVID-19 is linked to substantial inflammation, how SARS-CoV-2 triggers …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
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 …
Genome-wide prediction of disease variant effects with a deep protein language model
Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …
models have improved variant effect prediction accuracy, they cannot analyze all coding …
A single-cell atlas of human and mouse white adipose tissue
MP Emont, C Jacobs, AL Essene, D Pant, D Tenen… - Nature, 2022 - nature.com
White adipose tissue, once regarded as morphologically and functionally bland, is now
recognized to be dynamic, plastic and heterogenous, and is involved in a wide array of …
recognized to be dynamic, plastic and heterogenous, and is involved in a wide array of …
[HTML][HTML] Organization of the human intestine at single-cell resolution
The intestine is a complex organ that promotes digestion, extracts nutrients, participates in
immune surveillance, maintains critical symbiotic relationships with microbiota and affects …
immune surveillance, maintains critical symbiotic relationships with microbiota and affects …
Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …