Brian Spitzer

Association of polygenic risk scores with low-density lipoprotein cholesterol levels and control: findings from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

This study evaluates polygenic risk scores (PRS) for LDL cholesterol in a diverse Hispanic/Latino population, finding that some PRS improve prediction across subgroups but statin effectiveness varies with genetic ancestry.

The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup

The paper introduces the expected polygenic risk score (ePRS) framework to address population stratification in polygenic risk score analysis by modeling ancestral makeup, showing it provides equitable risk quantification across diverse populations.

cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

Genome-wide association analysis of composite sleep health scores in 413,904 individuals

This study performs genome-wide association analysis on composite sleep health scores, identifying 28 novel loci and confirming 341 previously reported loci, with insights into genetic mechanisms and pathways.

Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype

This study identifies gene-environment interactions between excessive daytime sleepiness and genetic variants linked to obstructive sleep apnea severity, revealing novel therapeutic targets.

Differential prediction performance between Caribbean- and Mainland-subgroups using state-of-the-art polygenic risk scores for coronary heart disease: Findings from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

This study evaluates polygenic risk scores for coronary heart disease in Hispanic/Latino subgroups, finding better performance in Mainland compared to Caribbean subgroups.