Stephanie A. Bien

TL;DR: The value of diverse, multi-ethnic participants in large-scale genomic studies is demonstrated and evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts and insights into clinical implications are shown.

TL;DR: Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.

TL;DR: In additional genome-wide meta-analyses adjusting for PA and interaction with PA, 11 novel adiposity loci are identified, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.

TL;DR: The models determined risk of CRC and starting ages for screening with greater accuracy than the family history only model, which is based on the current screening guideline, might serve as a first step toward developing individualized CRC prevention strategies.

TL;DR: It is demonstrated that using TOPMed sequencing data as the imputation reference panel improves genotypes into admixed African and Hispanic/Latino samples with genome-wide genotyping array data, which subsequently enhanced gene-mapping power for complex traits.