Alan M. Kwong

Association between polygenic risk and survival in breast cancer patients

This study finds that higher polygenic risk scores for breast cancer are associated with longer survival in patients, suggesting a link between genetic predisposition and less aggressive tumors.

Multivariate genome-wide association analysis of quantitative reading skill and dyslexia improves gene discovery

This study uses a multivariate GWAS approach to identify genetic loci associated with reading ability and dyslexia, finding 35 new genome-wide significant loci and estimating SNP heritability at 24%.

Insights into Ancestral Diversity in Parkinsons Disease Risk: A Comparative Assessment of Polygenic Risk Scores

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

Bidirectional relationship between olfaction and Parkinson's disease

This study identifies genetic correlations between hyposmia and Parkinson's disease, finding a strong causal link from PD to hyposmia but weaker evidence for the reverse.

The shared genetic architecture and evolution of human language and musical rhythm

This study investigates the shared genetic architecture between rhythm and dyslexia using large-scale genome-wide association studies.

MUSSEL: Enhanced Bayesian Polygenic Risk Prediction Leveraging Information across Multiple Ancestry Groups

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

Multi-ancestry genome-wide meta-analysis in Parkinson's disease

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

A new method for multi-ancestry polygenic prediction improves performance across diverse populations

The paper introduces CT-SLEB, a method for multi-ancestry polygenic prediction that improves performance in non-European populations using GWAS summary statistics and simulation studies.

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

This paper introduces RUTH, a new HWE test that accounts for population structure and genotype uncertainty, showing it reduces false positives compared to traditional methods.

FIVEx: an interactive multi-tissue eQTL browser

FIVEx is an interactive eQTL browser that helps interpret tissue-specific genetic variants using GTEx data.

A vast resource of allelic expression data spanning human tissues

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

Cell type specific genetic regulation of gene expression across human tissues

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

Determinants of telomere length across human tissues

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

A Quantitative Proteome Map of the Human Body

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.