Quantifying the contribution of Neanderthal introgression to the heritability of complex traits

E McArthur, DC Rinker, JA Capra - Nature communications, 2021 - nature.com
Abstract Eurasians have~ 2% Neanderthal ancestry, but we lack a comprehensive
understanding of the genome-wide influence of Neanderthal introgression on modern …

Polygenic risk scores: the future of cancer risk prediction, screening, and precision prevention

Y Wang, M Zhu, H Ma, H Shen - Medical Review, 2021 - degruyter.com
Genome-wide association studies (GWASs) have shown that the genetic architecture of
cancers are highly polygenic and enabled researchers to identify genetic risk loci for …

Dissecting the heritable risk of breast cancer: from statistical methods to susceptibility genes

V Fanfani, M Zatopkova, AL Harris, F Pezzella… - Seminars in cancer …, 2021 - Elsevier
Decades of research have shown that rare highly penetrant mutations can promote
tumorigenesis, but it is still unclear whether variants observed at high-frequency in the …

[PDF][PDF] Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data

A Pazokitoroudi, AM Chiu, KS Burch, B Pasaniuc… - The American Journal of …, 2021 - cell.com
The proportion of variation in complex traits that can be attributed to non-additive genetic
effects has been a topic of intense debate. The availability of biobank-scale datasets of …

Estimation of regional polygenicity from GWAS provides insights into the genetic architecture of complex traits

R Johnson, KS Burch, K Hou, M Paciuc… - PLoS computational …, 2021 - journals.plos.org
The number of variants that have a non-zero effect on a trait (ie. polygenicity) is a
fundamental parameter in the study of the genetic architecture of a complex trait. Although …

GxEsum: a novel approach to estimate the phenotypic variance explained by genome-wide GxE interaction based on GWAS summary statistics for biobank-scale data

J Shin, SH Lee - Genome biology, 2021 - Springer
Genetic variation in response to the environment, that is, genotype-by-environment
interaction (GxE), is fundamental in the biology of complex traits and diseases. However …

Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits

M Patxot, DT Banos, A Kousathanas, EJ Orliac… - Nature …, 2021 - nature.com
We develop a Bayesian model (BayesRR-RC) that provides robust SNP-heritability
estimation, an alternative to marker discovery, and accurate genomic prediction, taking 22 …

External validation of integrated genetic-epigenetic biomarkers for predicting incident coronary heart disease

MV Dogan, S Knight, TK Dogan, KU Knowlton… - …, 2021 - Future Medicine
Aim: The Framingham Risk Score (FRS) and atherosclerotic cardiovascular disease
(ASCVD) Pooled Cohort Equation (PCE) for predicting risk for incident coronary heart …

Genomic architecture and prediction of censored time-to-event phenotypes with a Bayesian genome-wide analysis

SE Ojavee, A Kousathanas, D Trejo Banos… - Nature …, 2021 - nature.com
While recent advancements in computation and modelling have improved the analysis of
complex traits, our understanding of the genetic basis of the time at symptom onset remains …

Evaluation of modifiable factors and polygenic risk score in thyroid cancer

T Hoang, QN Ngoc, J Lee, EK Lee… - Endocrine-Related …, 2021 - erc.bioscientifica.com
The cumulative effect of single-nucleotide polymorphisms (SNPs) on thyroid cancer has
been adequately defined in individuals of European ancestry; however, similar evidence in …