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 …
The sequences of 150,119 genomes in the UK Biobank
BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …
phenotypic diversity depends on a comprehensive and reliable characterization of both …
Polygenic scoring accuracy varies across the genetic ancestry continuum
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …
example, by genetic ancestries and/or social determinants of health), preventing their …
LDpred2: better, faster, stronger
Motivation Polygenic scores have become a central tool in human genetics research.
LDpred is a popular method for deriving polygenic scores based on summary statistics and …
LDpred is a popular method for deriving polygenic scores based on summary statistics and …
The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential …
Biobanks linked to electronic health records provide rich resources for health‐related
research. With improvements in administrative and informatics infrastructure, the availability …
research. With improvements in administrative and informatics infrastructure, the availability …
Genomic mechanisms of climate adaptation in polyploid bioenergy switchgrass
Long-term climate change and periodic environmental extremes threaten food and fuel
security and global crop productivity,–. Although molecular and adaptive breeding strategies …
security and global crop productivity,–. Although molecular and adaptive breeding strategies …
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
G Bjornsdottir, MA Chalmer, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet
mostly studied as one phenotype in genome-wide association studies (GWAS). Here we …
mostly studied as one phenotype in genome-wide association studies (GWAS). Here we …
Genetic ancestry effects on the response to viral infection are pervasive but cell type specific
HE Randolph, JK Fiege, BK Thielen, CK Mickelson… - Science, 2021 - science.org
Humans differ in their susceptibility to infectious disease, partly owing to variation in the
immune response after infection. We used single-cell RNA sequencing to quantify variation …
immune response after infection. We used single-cell RNA sequencing to quantify variation …
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
Heart failure is a leading cause of cardiovascular morbidity and mortality. However, the
contribution of common genetic variation to heart failure risk has not been fully elucidated …
contribution of common genetic variation to heart failure risk has not been fully elucidated …
Performing highly efficient genome scans for local adaptation with R package pcadapt version 4
F Privé, K Luu, BJ Vilhjálmsson… - Molecular Biology and …, 2020 - academic.oup.com
R package pcadapt is a user-friendly R package for performing genome scans for local
adaptation. Here, we present version 4 of pcadapt which substantially improves …
adaptation. Here, we present version 4 of pcadapt which substantially improves …