Population-specific causal disease effect sizes in functionally important regions impacted by selection

H Shi, S Gazal, M Kanai, EM Koch, AP Schoech… - Nature …, 2021 - nature.com
… Since the functional annotations are moderately correlated with the 8 continuous-… that causal
disease effect sizes are more population-specific in functionally important regions impacted

[PDF][PDF] Population-specific causal disease effect sizes in

H Shi, S Gazal, M Kanai, EM Koch - scholar.archive.org
regions impacted by selection and 369 stronger G¢E interaction in functionally important
regions … a challenge, because functionally important regions are more strongly impacted 371 by …

[HTML][HTML] Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases

K Yuan, RJ Longchamps, AF Pardiñas, M Yu, TT Chen… - medRxiv, 2023 - ncbi.nlm.nih.gov
population-specific PIPs for each variant in a credible set), while allowing them to have varying
effect sizes (including null effects) … among mutations of functional importance. In total, we …

Leveraging fine-mapping and non-European training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - MedRxiv, 2021 - medrxiv.org
… (including population-specific SNPs), and/or causal effect size … ,30 ; functional annotations
impacted prior causal probabilities … the HLA region and two other long-range LD regions from …

Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
effect size distribution of each variant in the two populations to be null, population-specific or
… informed statistical fine-mapping to identify and prioritize functional variants, whose effects

Allele frequency differences of causal variants have a major impact on low cross-ancestry portability of PRS

M Saitou, A Dahl, Q Wang, X Liu - medRxiv, 2022 - medrxiv.org
… by applying SuSiE 26 with functionally informed priors, which … differences in causal allele
frequencies, causal effect sizes, … explained by shared and population specific effects, we used …

Leveraging fine-scale population structure reveals conservation in genetic effect sizes between human populations across a range of human phenotypes

S Hu, LAF Ferreira, S Shi, G Hellenthal, J Marchini… - bioRxiv, 2023 - biorxiv.org
… ancestry, we demonstrate that estimated causal effect sizes are highly similar across these
Population-specific causal disease effect sizes in functionally important regions impacted by …

[HTML][HTML] Maintenance of complex trait variation: classic theory and modern data

EM Koch, SR Sunyaev - Frontiers in genetics, 2021 - frontiersin.org
… it is indistinguishable which trait causally impacts fitness, although a … If 10% of the genome
is of any functional importance, and trait… have population-specific effect sizes. Such studies are …

[PDF][PDF] Extreme polygenicity of complex traits is explained by negative selection

LJ O'Connor, AP Schoech, F Hormozdiari… - The American Journal of …, 2019 - cell.com
… Second, functionally important regions of the genome should … increased causal effect
sizes, as the maximum effect size is … regions of the genome have been under population-specific

[PDF][PDF] Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease

MH Quiver, J Lachance - Human Genetics and Genomics Advances, 2022 - cell.com
… We found that effect sizes of eQTLs were negatively … Regardless of the proportion of the
human genome that is functional,… have a large effect on gene expression (A) Population-specific