Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Genetics of coronary artery disease: discovery, biology and clinical translation

AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …

Leveraging polygenic functional enrichment to improve GWAS power

G Kichaev, G Bhatia, PR Loh, S Gazal, K Burch… - The American Journal of …, 2019 - cell.com
Functional genomics data has the potential to increase GWAS power by identifying SNPs
that have a higher prior probability of association. Here, we introduce a method that …

Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

S Gazal, HK Finucane, NA Furlotte, PR Loh… - Nature …, 2017 - nature.com
Recent work has hinted at the linkage disequilibrium (LD)-dependent architecture of human
complex traits, where SNPs with low levels of LD (LLD) have larger per-SNP heritability …

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

A Gusev, N Mancuso, H Won, M Kousi, HK Finucane… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) have identified over 100 risk loci for
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …

Genetics of coronary artery disease

R McPherson, A Tybjaerg-Hansen - Circulation research, 2016 - Am Heart Assoc
Genetic factors contribute importantly to the risk of coronary artery disease (CAD), and in the
past decade, there has been major progress in this area. The tools applied include genome …

Genetics of common, complex coronary artery disease

K Musunuru, S Kathiresan - Cell, 2019 - cell.com
Coronary artery disease represents the leading cause of death worldwide, sparing no
nation, ethnicity, or economic stratum. Coronary artery disease is partly heritable. While …

Single-cell epigenomics and functional fine-mapping of atherosclerosis GWAS loci

T Örd, K Õunap, LK Stolze, R Aherrahrou… - Circulation …, 2021 - Am Heart Assoc
Rationale: Genome-wide association studies have identified hundreds of loci associated
with coronary artery disease (CAD). Many of these loci are enriched in cisregulatory …

Integrated polygenic tool substantially enhances coronary artery disease prediction

F Riveros-Mckay, ME Weale, R Moore… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: There is considerable interest in whether genetic data can be used to improve
standard cardiovascular disease risk calculators, as the latter are routinely used in clinical …

Relevance of multi-omics studies in cardiovascular diseases

P Leon-Mimila, J Wang… - Frontiers in cardiovascular …, 2019 - frontiersin.org
Cardiovascular diseases are the leading cause of death around the world. Despite the
larger number of genes and loci identified, the precise mechanisms by which these genes …