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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 …
[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …
European descent, but it is essential that diverse populations become better represented …
Demographic bias in misdiagnosis by computational pathology models
Despite increasing numbers of regulatory approvals, deep learning-based computational
pathology systems often overlook the impact of demographic factors on performance …
pathology systems often overlook the impact of demographic factors on performance …
Race, genetic ancestry, and estimating kidney function in CKD
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 …
(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
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 …
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
Genetic factors are recognized to contribute to peptic ulcer disease (PUD) and other
gastrointestinal diseases, such as gastro-oesophageal reflux disease (GORD), irritable …
gastrointestinal diseases, such as gastro-oesophageal reflux disease (GORD), irritable …
Causal associations between risk factors and common diseases inferred from GWAS summary data
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 …
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
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 …
gene expression data together with genome-wide association study (GWAS) summary …
Reference-based phasing using the Haplotype Reference Consortium panel
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 …
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
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …