Mono-and biallelic variant effects on disease at biobank scale

HO Heyne, J Karjalainen, KJ Karczewski, SM Lemmelä… - Nature, 2023 - nature.com
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …

Dominance and multi-locus interaction

J Li, C Bank - Trends in Genetics, 2024 - cell.com
Dominance is usually considered a constant value that describes the relative difference in
fitness or phenotype between heterozygotes and the average of homozygotes at a focal …

Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations

A Capalbo, G de Wert, H Mertes… - Human reproduction …, 2024 - academic.oup.com
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF)
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …

Exposure to Air Pollution, Genetic Susceptibility, and Psoriasis Risk in the UK

J Wu, Y Ma, J Yang, Y Tian - JAMA Network Open, 2024 - jamanetwork.com
Importance Psoriasis is a common autoinflammatory disease influenced by complex
interactions between environmental and genetic factors. The influence of long-term air …

A polygenic score method boosted by non-additive models

R Ohta, Y Tanigawa, Y Suzuki, M Kellis… - Nature …, 2024 - nature.com
Dominance heritability in complex traits has received increasing recognition. However, most
polygenic score (PGS) approaches do not incorporate non-additive effects. Here, we present …

Discovering non-additive heritability using additive GWAS summary statistics

SP Smith, G Darnell, D Udwin, J Stamp, A Harpak… - Elife, 2024 - elifesciences.org
LD score regression (LDSC) is a method to estimate narrow-sense heritability from genome-
wide association study (GWAS) summary statistics alone, making it a fast and popular …

Sibling Differences in Genetic Propensity for Education: How do Parents React?

A Sanz-de-Galdeano, A Terskaya - Review of Economics and …, 2023 - direct.mit.edu
We take advantage of recent advances in genomics to revisit a classic question in
economics: how do parents respond to children's endowments and to sibling differences in …

Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D

X Wang, V Hivert, S Groot, Y Wang, L Yengo… - PLoS …, 2023 - journals.plos.org
Vitamin D status–a complex trait influenced by environmental and genetic factors–is tightly
associated with skin colour and ancestry. Yet very few studies have investigated the genetic …

Dominance is common in mammals and is associated with trans-acting gene expression and alternative splicing

L Cui, B Yang, S Xiao, J Gao, A Baud, D Graham… - Genome Biology, 2023 - Springer
Background Dominance and other non-additive genetic effects arise from the interaction
between alleles, and historically these phenomena play a major role in quantitative …

Accounting for statistical non-additive interactions enables the recovery of missing heritability from GWAS summary statistics

SP Smith, G Darnell, D Udwin, A Harpak… - bioRxiv, 2022 - biorxiv.org
LD score regression (LDSC) is a method to estimate narrow-sense heritability from genome-
wide association study (GWAS) summary statistics alone, making it a fast and popular …