[HTML][HTML] Genetic variants and their interactions in disease risk prediction–machine learning and network perspectives

S Okser, T Pahikkala, T Aittokallio - BioData mining, 2013 - Springer
A central challenge in systems biology and medical genetics is to understand how
interactions among genetic loci contribute to complex phenotypic traits and human diseases …

Contemporary considerations for constructing a genetic risk score: an empirical approach

BA Goldstein, L Yang, E Salfati… - Genetic …, 2015 - Wiley Online Library
Genetic risk scores are an increasingly popular tool for summarizing the cumulative risk of a
set of Single Nucleotide Polymorphisms (SNPs) with disease. Typically only the set of the …

[HTML][HTML] The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

J Kumuthini, B Zick, A Balasopoulou, C Chalikiopoulou… - Human Genetics, 2022 - Springer
Genomic medicine aims to improve health using the individual genomic data of people to
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …

[HTML][HTML] Prospects for using risk scores in polygenic medicine

CM Lewis, E Vassos - Genome medicine, 2017 - Springer
Editorial summary Genome-wide association studies have made strides in identifying
common variation associated with disease. The modest effect sizes preclude risk prediction …

Multigenic modeling of complex disease by random forests

YV Sun - Advances in genetics, 2010 - Elsevier
The genetics and heredity of complex human traits have been studied for over a century.
Many genes have been implicated in these complex traits. Genome-wide association …

[HTML][HTML] Influence of feature encoding and choice of classifier on disease risk prediction in genome-wide association studies

F Mittag, M Römer, A Zell - PloS one, 2015 - journals.plos.org
Various attempts have been made to predict the individual disease risk based on genotype
data from genome-wide association studies (GWAS). However, most studies only …

[HTML][HTML] Non-parametric polygenic risk prediction via partitioned GWAS summary statistics

S Chun, M Imakaev, D Hui, NA Patsopoulos… - The American Journal of …, 2020 - cell.com
In complex trait genetics, the ability to predict phenotype from genotype is the ultimate
measure of our understanding of genetic architecture underlying the heritability of a trait. A …

Multiomic blood correlates of genetic risk identify presymptomatic disease alterations

M Wainberg, AT Magis, JC Earls… - Proceedings of the …, 2020 - National Acad Sciences
Transitions from health to disease are characterized by dysregulation of biological networks
under the influence of genetic and environmental factors, often over the course of years to …

[HTML][HTML] On cross-ancestry cancer polygenic risk scores

LG Fritsche, Y Ma, D Zhang, M Salvatore, S Lee… - PLoS …, 2021 - journals.plos.org
Polygenic risk scores (PRS) can provide useful information for personalized risk stratification
and disease risk assessment, especially when combined with non-genetic risk factors …

[HTML][HTML] A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease

K Norland, DJ Schaid, IJ Kullo - European Journal of Human Genetics, 2024 - nature.com
Polygenic scores (PGS) for coronary heart disease (CHD) are constructed using GWAS
summary statistics for CHD. However, pleiotropy is pervasive in biology and disease …