Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
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 …
genetic liability to a trait or disease, calculated according to their genotype profile and …
[HTML][HTML] A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
[HTML][HTML] Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
[HTML][HTML] Multiomics study of nonalcoholic fatty liver disease
G Sveinbjornsson, MO Ulfarsson, RB Thorolfsdottir… - Nature …, 2022 - nature.com
Nonalcoholic fatty liver (NAFL) and its sequelae are growing health problems. We performed
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
[HTML][HTML] Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most …
Previous genome-wide association studies have identified over 100 loci for the most …
Cross-trait assortative mating is widespread and inflates genetic correlation estimates
The observation of genetic correlations between disparate human traits has been
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …
[HTML][HTML] Multi-ancestry genome-wide association study of cannabis use disorder yields insight into disease biology and public health implications
As recreational use of cannabis is being decriminalized in many places and medical use
widely sanctioned, there are growing concerns about increases in cannabis use disorder …
widely sanctioned, there are growing concerns about increases in cannabis use disorder …