[HTML][HTML] Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease

J Lake, C Warly Solsberg, JJ Kim, J Acosta-Uribe… - Molecular …, 2023 - nature.com
Genome-wide association studies (GWAS) of Alzheimer's disease are predominantly carried
out in European ancestry individuals despite the known variation in genetic architecture and …

Polygenic risk scores for the prediction of cardiometabolic disease

JW O'Sullivan, EA Ashley, PM Elliott - European Heart Journal, 2023 - academic.oup.com
Cardiometabolic diseases contribute more to global morbidity and mortality than any other
group of disorders. Polygenic risk scores (PRSs), the weighted summation of individually …

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification

J Ryu, S Barkal, T Yu, M Jankowiak, Y Zhou… - Nature Genetics, 2024 - nature.com
CRISPR base editing screens enable analysis of disease-associated variants at scale;
however, variable efficiency and precision confounds the assessment of variant-induced …

[PDF][PDF] Low and differential polygenic score generalizability among African populations due largely to genetic diversity

L Majara, A Kalungi, N Koen, K Tsuo, Y Wang… - Human Genetics and …, 2023 - cell.com
African populations are vastly underrepresented in genetic studies but have the most
genetic variation and face wide-ranging environmental exposures globally. Because …

Rare genetic variants explain missing heritability in smoking

SK Jang, L Evans, A Fialkowski, DK Arnett… - Nature human …, 2022 - nature.com
Common genetic variants explain less variation in complex phenotypes than inferred from
family-based studies, and there is a debate on the source of this 'missing heritability'. We …

[PDF][PDF] The HUNT Study: a population-based cohort for genetic research

BM Brumpton, S Graham, I Surakka, AH Skogholt… - Cell Genomics, 2022 - cell.com
Summary The Trøndelag Health Study (HUNT) is a population-based cohort of∼ 229,000
individuals recruited in four waves beginning in 1984 in Trøndelag County, Norway …

EraSOR: a software tool to eliminate inflation caused by sample overlap in polygenic score analyses

SW Choi, TSH Mak, CJ Hoggart, PF O'Reilly - GigaScience, 2023 - academic.oup.com
Background Polygenic risk score (PRS) analyses are now routinely applied across
biomedical research. However, as PRS studies grow in size, there is an increased risk of …

[HTML][HTML] Exploring the causal effects of the gut microbiome on serum lipid levels: A two-sample Mendelian randomization analysis

G Guo, Y Wu, Y Liu, Z Wang, G Xu, X Wang… - Frontiers in …, 2023 - frontiersin.org
Background The gut microbiome was reported to be associated with dyslipidemia in
previous observational studies. However, whether the composition of the gut microbiome …

[HTML][HTML] Lipid traits and type 2 diabetes risk in African ancestry individuals: A Mendelian Randomization study

O Soremekun, V Karhunen, Y He, S Rajasundaram… - …, 2022 - thelancet.com
Background Dyslipidaemia is highly prevalent in individuals with type 2 diabetes mellitus
(T2DM). Numerous studies have sought to disentangle the causal relationship between …

Importance of diversity in precision medicine: Generalizability of genetic associations across ancestry groups toward better identification of disease susceptibility …

LA Cruz, JN Cooke Bailey… - Annual review of …, 2023 - annualreviews.org
Genome-wide association studies (GWAS) revolutionized our understanding of common
genetic variation and its impact on common human disease and traits. Developed and …