Genetic correlations of polygenic disease traits: from theory to practice

W Van Rheenen, WJ Peyrot, AJ Schork… - Nature Reviews …, 2019 - nature.com
The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …

Developing and evaluating polygenic risk prediction models for stratified disease prevention

N Chatterjee, J Shi, M García-Closas - Nature Reviews Genetics, 2016 - nature.com
Abstract Knowledge of genetics and its implications for human health is rapidly evolving in
accordance with recent events, such as discoveries of large numbers of disease …

Detection and interpretation of shared genetic influences on 42 human traits

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung… - Nature …, 2016 - nature.com
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …

[HTML][HTML] Understanding the genetic determinants of the brain with MOSTest

D van der Meer, O Frei, T Kaufmann, AA Shadrin… - Nature …, 2020 - nature.com
Regional brain morphology has a complex genetic architecture, consisting of many common
polymorphisms with small individual effects. This has proven challenging for genome-wide …

Polygenic scores via penalized regression on summary statistics

TSH Mak, RM Porsch, SW Choi, X Zhou… - Genetic …, 2017 - Wiley Online Library
Polygenic scores (PGS) summarize the genetic contribution of a person's genotype to a
disease or phenotype. They can be used to group participants into different risk categories …

Performance measures in evaluating machine learning based bioinformatics predictors for classifications

Y Jiao, P Du - Quantitative Biology, 2016 - Springer
Background Many existing bioinformatics predictors are based on machine learning
technology. When applying these predictors in practical studies, their predictive …

Genome-wide pleiotropy between Parkinson disease and autoimmune diseases

A Witoelar, IE Jansen, Y Wang, RS Desikan… - JAMA …, 2017 - jamanetwork.com
Importance Recent genome-wide association studies (GWAS) and pathway analyses
supported long-standing observations of an association between immune-mediated …

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

DM Ruderfer, AH Fanous, S Ripke, A McQuillin… - Molecular …, 2014 - nature.com
Bipolar disorder and schizophrenia are two often severe disorders with high heritabilities.
Recent studies have demonstrated a large overlap of genetic risk loci between these …

Discovery of shared genomic loci using the conditional false discovery rate approach

OB Smeland, O Frei, A Shadrin, K O'Connell, CC Fan… - Human genetics, 2020 - Springer
In recent years, genome-wide association study (GWAS) sample sizes have become larger,
the statistical power has improved and thousands of trait-associated variants have been …

[HTML][HTML] Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

PA Lyons, JE Peters, F Alberici, J Liley… - Nature …, 2019 - nature.com
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of
unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) …