Li Hsu

TL;DR: Evidence is provided that low‐frequency non‐coding variants have large effects on BMD and fracture, thereby providing rationale for whole‐genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.

TL;DR: First-time prevalence estimates for BRCA1/BRCA2 in breast cancer cases among understudied racial and age groups are provided and key predictors of mutation carrier status for both White and Black women and women of a wide age spectrum with breast cancer in the general population are shown.

TL;DR: This large-scale genomic analysis of colorectal cancer demonstrates that MSI-high cases frequently undergo an immunoediting process that provides them with genetic events allowing immune escape despite high mutational load and frequent lymphocytic infiltration and, furthermore, that coloreCTal cancer tumors have genetic and methylation events associated with activated WNT signaling and T-cell exclusion.

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 a large genome-wide association study, polymorphisms close to nucleic acid binding protein 1 (which encodes a DNA-binding protein involved in DNA repair) with colorectal tumor risk and polymorphisms in laminin gamma 1, cyclin D2, and T-box 3 are associated.