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 …

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 …

Polygenic scoring accuracy varies across the genetic ancestry continuum

Y Ding, K Hou, Z Xu, A Pimplaskar, E Petter, K Boulier… - Nature, 2023 - nature.com
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …

LDpred2: better, faster, stronger

F Privé, J Arbel, BJ Vilhjálmsson - Bioinformatics, 2020 - academic.oup.com
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 …

The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential …

LJ Beesley, M Salvatore, LG Fritsche… - Statistics in …, 2020 - Wiley Online Library
Biobanks linked to electronic health records provide rich resources for health‐related
research. With improvements in administrative and informatics infrastructure, the availability …

Genomic mechanisms of climate adaptation in polyploid bioenergy switchgrass

JT Lovell, AH MacQueen, S Mamidi, J Bonnette… - Nature, 2021 - nature.com
Long-term climate change and periodic environmental extremes threaten food and fuel
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 …

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 …

Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

MG Levin, NL Tsao, P Singhal, C Liu, HMT Vy… - Nature …, 2022 - nature.com
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 …

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 …