Colby Chiang

Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection

The paper introduces LDSPEC to estimate correlations between causal disease effects of proximal SNPs, finding significant correlations that vary with distance, allele frequency, LD, and functional annotations, implicating stabilizing selection.

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

The paper identifies structural variants as a major source of gene expression differences, showing they affect multiple genes and have broader expression effects than SNVs or indels.

Association of Structural Variation with Cardiometabolic Traits in Finns

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

svtools: population-scale analysis of structural variation

svtools enables population-scale structural variation analysis by providing a fast, scalable toolkit and cloud pipeline for high-quality SV mapping across thousands of human genomes.

Exome sequencing identifies high impact trait-associated alleles enriched in Finns

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes

The paper maps and characterizes structural variants in 17,795 human genomes, revealing their frequency, impact, and relationship to gene dosage and regulatory elements.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

The impact of structural variation on human gene expression

This study identifies structural variants (SVs) as significant contributors to gene expression, finding they are more frequent causal variants than previously estimated and have larger effect sizes.

The impact of rare variation on gene expression across tissues

The paper identifies rare variants contributing to extreme gene expression changes across tissues and introduces RIVER, a Bayesian method to prioritize functional variants.

SpeedSeq: Ultra-fast personal genome analysis and interpretation

SpeedSeq reduces genome analysis time to under 24 hours using a single low-cost server, enabling faster clinical applications like cancer profiling and newborn diagnosis.