[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 …
interactions among genetic loci contribute to complex phenotypic traits and human diseases …
Contemporary considerations for constructing a genetic risk score: an empirical approach
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 …
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 …
inform care. While clinical utility of genomic medicine in many monogenic, Mendelian …
[HTML][HTML] Prospects for using risk scores in polygenic medicine
Editorial summary Genome-wide association studies have made strides in identifying
common variation associated with disease. The modest effect sizes preclude risk prediction …
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 …
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
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 …
data from genome-wide association studies (GWAS). However, most studies only …
[HTML][HTML] Non-parametric polygenic risk prediction via partitioned GWAS summary statistics
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 …
measure of our understanding of genetic architecture underlying the heritability of a trait. A …
Multiomic blood correlates of genetic risk identify presymptomatic disease alterations
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 …
under the influence of genetic and environmental factors, often over the course of years to …
[HTML][HTML] On cross-ancestry cancer polygenic risk scores
Polygenic risk scores (PRS) can provide useful information for personalized risk stratification
and disease risk assessment, especially when combined with non-genetic risk factors …
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
Polygenic scores (PGS) for coronary heart disease (CHD) are constructed using GWAS
summary statistics for CHD. However, pleiotropy is pervasive in biology and disease …
summary statistics for CHD. However, pleiotropy is pervasive in biology and disease …