Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
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 …

[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Demographic bias in misdiagnosis by computational pathology models

A Vaidya, RJ Chen, DFK Williamson, AH Song… - Nature Medicine, 2024 - nature.com
Despite increasing numbers of regulatory approvals, deep learning-based computational
pathology systems often overlook the impact of demographic factors on performance …

Race, genetic ancestry, and estimating kidney function in CKD

C Hsu, W Yang, RV Parikh, AH Anderson… - … England Journal of …, 2021 - Mass Medical Soc
Background The inclusion of race in equations to estimate the glomerular filtration rate
(GFR) has become controversial. Alternative equations that can be used to achieve similar …

Race and genetic ancestry in medicine—a time for reckoning with racism

LN Borrell, JR Elhawary, E Fuentes-Afflick… - … England Journal of …, 2021 - Mass Medical Soc
Race and Genetic Ancestry in Medicine US health inequities won't be eliminated by
abandoning the use of race and ethnicity in research and clinical practice, since these …

GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression

Y Wu, GK Murray, EM Byrne, J Sidorenko… - Nature …, 2021 - nature.com
Genetic factors are recognized to contribute to peptic ulcer disease (PUD) and other
gastrointestinal diseases, such as gastro-oesophageal reflux disease (GORD), irritable …

Causal associations between risk factors and common diseases inferred from GWAS summary data

Z Zhu, Z Zheng, F Zhang, Y Wu, M Trzaskowski… - Nature …, 2018 - nature.com
Health risk factors such as body mass index (BMI) and serum cholesterol are associated
with many common diseases. It often remains unclear whether the risk factors are cause or …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …

Reference-based phasing using the Haplotype Reference Consortium panel

PR Loh, P Danecek, PF Palamara, C Fuchsberger… - Nature …, 2016 - nature.com
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is
generally performed via statistical phasing in a genotyped cohort, an approach that can yield …

Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts

SR Rashkin, RE Graff, L Kachuri, KK Thai… - Nature …, 2020 - nature.com
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …