Nuzulul Kurniansyah

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.

A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations

This paper develops an APOE-independent polygenic risk score for Alzheimer's disease that shows associations with cognitive decline and neuropathological markers across diverse populations.

A semi-empirical Bayes approach for calibrating weak instrumental bias in sex-specific Mendelian randomization studies

This paper develops a semi-empirical Bayesian framework to calibrate weak instrumental bias in sex-specific Mendelian randomization studies, revealing significant sex differences in causal effects of sleep phenotypes on cardiovascular diseases.

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.

Genome-wide association study of obstructive sleep apnea in the Million Veteran Program uncovers genetic heterogeneity by sex

This study conducts a GWAS of obstructive sleep apnea in the Million Veteran Program, identifying sex-specific genetic loci and highlighting genetic heterogeneity by sex.

Polygenic Risk Prediction using Gradient Boosted Trees Captures Non-Linear Genetic Effects and Allele Interactions in Complex Phenotypes

This paper uses gradient boosted trees to improve polygenic risk prediction by capturing non-linear genetic effects and SNP interactions, showing significant increases in variance explained for multiple complex traits.

An integrated multi-omics analysis of sleep-disordered breathing traits across multiple blood cell types

The paper integrates multi-omics data to analyze how sleep-disordered breathing traits affect gene expression, metabolites, and potential causal pathways across blood cell types.

A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

This paper constructs a multi-ethnic polygenic risk score for hypertension and shows it is associated with hypertension prevalence, progression, and related clinical outcomes.

BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

The paper introduces BinomiRare, a test for rare variant association with binary outcomes in mixed models, showing it controls type 1 error in simulations and applies it to study genetic variants in disease traits.

Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies

The paper benchmarks RNA-seq association analyses for continuous exposures using DESeq2, edgeR, limma, and linear regression, finding linear regression methods are faster and better at controlling false detections.

Polygenic Risk Scores for Alzheimer's Disease and Mild Cognitive Impairment in Hispanics/Latinos in the U.S: The Study of Latinos - Investigation ofNeurocognitive Aging

The paper evaluates polygenic risk scores for Alzheimer's Disease and Mild Cognitive Impairment in Hispanics/Latinos, finding that PRS based on AD GWAS predict MCI, with APOE region SNPs driving the association.

Transcriptional survey of peripheral blood links lower oxygen saturation during sleep with reduced expressions of CD1D and RAB20 that is reversed by CPAP therapy

The paper examines gene expression in blood cells linked to sleep apnea traits, identifying CD1D and RAB20 expression changes reversed by CPAP treatment.