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 …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
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 …

[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett… - Nature …, 2022 - nature.com
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 …

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 …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
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

N Brandes, G Goldman, CH Wang, CJ Ye, V Ntranos - Nature Genetics, 2023 - nature.com
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 …

[HTML][HTML] Organization of the human intestine at single-cell resolution

JW Hickey, WR Becker, SA Nevins, A Horning… - Nature, 2023 - nature.com
The intestine is a complex organ that promotes digestion, extracts nutrients, participates in
immune surveillance, maintains critical symbiotic relationships with microbiota and affects …

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 …

Stroke genetics informs drug discovery and risk prediction across ancestries

A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba… - Nature, 2022 - nature.com
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …