Polygenic scores and their applications in kidney disease

A Khan, K Kiryluk - Nature Reviews Nephrology, 2025 - nature.com
Genome-wide association studies (GWAS) have uncovered thousands of risk variants that
individually have small effects on the risk of human diseases, including chronic kidney …

MESuSiE enables scalable and powerful multi-ancestry fine-mapping of causal variants in genome-wide association studies

B Gao, X Zhou - Nature Genetics, 2024 - nature.com
Fine-mapping in genome-wide association studies attempts to identify causal SNPs from a
set of candidate SNPs in a local genomic region of interest and is commonly performed in …

Decoding polygenic diseases: advances in noncoding variant prioritization and validation

IM Chin, ZA Gardell, MR Corces - Trends in Cell Biology, 2024 - cell.com
Genome-wide association studies (GWASs) provide a key foundation for elucidating the
genetic underpinnings of common polygenic diseases. However, these studies have …

[HTML][HTML] NK2R control of energy expenditure and feeding to treat metabolic diseases

F Sass, T Ma, JH Ekberg, M Kirigiti, MG Ureña, L Dollet… - Nature, 2024 - nature.com
The combination of decreasing food intake and increasing energy expenditure represents a
powerful strategy for counteracting cardiometabolic diseases such as obesity and type 2 …

Functional dissection of complex and molecular trait variants at single nucleotide resolution

L Siraj, RI Castro, H Dewey, S Kales, TTL Nguyen… - …, 2024 - pmc.ncbi.nlm.nih.gov
Identifying the causal variants and mechanisms that drive complex traits and diseases
remains a core problem in human genetics. The majority of these variants have individually …

The goldmine of GWAS summary statistics: a systematic review of methods and tools

PI Kontou, PG Bagos - BioData Mining, 2024 - Springer
Genome-wide association studies (GWAS) have revolutionized our understanding of the
genetic architecture of complex traits and diseases. GWAS summary statistics have become …

Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia

X Dang, Z Teng, Y Yang, W Li, J Liu, L Hui… - Nature Human …, 2025 - nature.com
Genome-wide association studies (GWASs) have reported multiple risk loci for
schizophrenia (SCZ). However, the majority of the associations were from populations of …

Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12

B Akgun, BE Feliciano-Astacio… - Frontiers in aging …, 2024 - frontiersin.org
Introduction Hispanic/Latino populations are underrepresented in Alzheimer Disease (AD)
genetic studies. Puerto Ricans (PR), a three-way admixed (European, African, and …

Integration of expression QTLs with fine mapping via SuSiE

X Zhang, W Jiang, H Zhao - PLoS Genetics, 2024 - journals.plos.org
Genome-wide association studies (GWASs) have achieved remarkable success in
associating thousands of genetic variants with complex traits. However, the presence of …

Distinct genetic signals at the FGF21 locus complicate studies of FGF21's role in diet regulation using human cohort data

S Ramne, M García-Ureña, MP Gillum, L Ängquist… - Molecular …, 2024 - Elsevier
Objectives Experimental and genetic studies suggest that fibroblast growth factor 21
(FGF21) modulates macronutrient and alcohol preferences, but evidence of such regulation …