Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Nature Medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …
genome to estimate the risk of a disease or disease-related trait for an individual. The …
Epidemiology and risk-stratification of NAFLD-associated HCC
GN Ioannou - Journal of hepatology, 2021 - Elsevier
Non-alcoholic fatty liver disease (NAFLD) is projected to become the leading cause of
hepatocellular carcinoma (HCC) in many countries. Many risk factors for NAFLD are also …
hepatocellular carcinoma (HCC) in many countries. Many risk factors for NAFLD are also …
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
[HTML][HTML] Problems with using polygenic scores to select embryos
Companies have recently begun to sell a new service to patients considering in vitro
fertilization: embryo selection based on polygenic scores (ESPS). These scores represent …
fertilization: embryo selection based on polygenic scores (ESPS). These scores represent …
[HTML][HTML] Development of a clinical polygenic risk score assay and reporting workflow
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …
management but poses several challenges: the construction of clinically valid assays …
From basic science to clinical application of polygenic risk scores: a primer
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …
[HTML][HTML] A large-scale genome-wide association study meta-analysis of cannabis use disorder
Background Variation in liability to cannabis use disorder has a strong genetic component
(estimated twin and family heritability about 50–70%) and is associated with negative …
(estimated twin and family heritability about 50–70%) and is associated with negative …
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 …