Understanding germline-somatic interactions in cancer.

Selected papers:

Allele-Specific QTL Fine-Mapping with PLASMA. Wang et al. biorxiv

Allelic imbalance reveals widespread germline-somatic regulatory differences and prioritizes risk loci in Renal Cell Carcinoma. Gusev et al. biorxiv

Integrating molecular phenotypes to decipher disease mechanisms.

Selected papers:

Quantifying genetic effects on disease mediated by assayed gene expression levels. Yao et al. biorxiv

A transcriptome-wide association study of high-grade serous epithelial ovarian cancer identifies new susceptibility genes and splice variants. Gusev et al. Nature Genetics. 2019

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Gusev et al. Nature Genetics. 2018

Integrative approaches for large-scale transcriptome-wide association studies. Gusev et al. Nature Genetics. 2016

Inferring trait architecture at genome scale.

Selected papers:

Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation. Gusev et al. Nature communications. 2016

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Gusev et al. The American Journal of Human Genetics. 2014

Quantifying recent relatedness and evolution in massive cohorts.

Genomic data from hundreds of thousands of individuals is already available and growing. Can we efficiently infer the relationships between individuals using only genetic data from massive cohorts? Can we then relate these relationships to phenotype or health records to inform our understanding of disease? Do certain subpopulations have unusual phenotype effects? To what extent are these differences driven by the demography of the population, environment, or selection? This work is at the interface of efficient computational methods, population genetics, and health record informatics.

Selected papers:

Evidence for evolutionary shifts in the fitness landscape of human complex traits. Uricchio et al. Evolution Letters. 2019

Whole population, genome-wide mapping of hidden relatedness. Gusev et al. Genome res. 2009

DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation. Gusev et al. The American Journal of Human Genetics. 2011