The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

SA Lambert, L Gil, S Jupp, SC Ritchie, Y Xu… - Nature Genetics, 2021 - nature.com
We present the Polygenic Score (PGS) Catalog (https://www. PGSCatalog. org), an open
resource of published scores (including variants, alleles and weights) and consistently …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …

[PDF][PDF] Addressing the challenges of polygenic scores in human genetic research

J Novembre, C Stein, S Asgari… - The American Journal of …, 2022 - cell.com
The genotyping of millions of human samples has made it possible to evaluate variants
across the human genome for their possible association with risks for numerous diseases …

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 …

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 road ahead in genetics and genomics

AL McGuire, S Gabriel, SA Tishkoff, A Wonkam… - Nature Reviews …, 2020 - nature.com
In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …

NCBI's Database of Genotypes and Phenotypes: dbGaP

KA Tryka, L Hao, A Sturcke, Y Jin, ZY Wang… - Nucleic acids …, 2014 - academic.oup.com
Abstract The Database of Genotypes and Phenotypes (dbGap, http://www. ncbi. nlm. nih.
gov/gap) is a National Institutes of Health-sponsored repository charged to archive, curate …

Guidelines for genome-wide association studies

GS Barsh, GP Copenhaver, G Gibson… - PLoS genetics, 2012 - journals.plos.org
Genome-wide association studies (GWAS) have revolutionized human genetics. They have
led to the identification of thousands of loci that affect both normal variation and susceptibility …

Human genotype–phenotype databases: aims, challenges and opportunities

AJ Brookes, PN Robinson - Nature Reviews Genetics, 2015 - nature.com
Genotype–phenotype databases provide information about genetic variation, its
consequences and its mechanisms of action for research and health care purposes. Existing …

A public resource facilitating clinical use of genomes

MP Ball, JV Thakuria, AW Zaranek… - Proceedings of the …, 2012 - National Acad Sciences
Rapid advances in DNA sequencing promise to enable new diagnostics and individualized
therapies. Achieving personalized medicine, however, will require extensive research on …