Nehal Gosalia

The paper identifies recessive NOD2 inheritance as a major driver of early onset Crohn’s Disease in both pediatric and adult cohorts.

The paper performs exome-wide association studies in large cohorts to identify genetic variants linked to human age, finding new candidates and confirming known ones.

This study uses whole exome sequencing in 6,716 American Indians to identify metabolic trait-associated variants, finding unique pLOF and nonsynonymous variants linked to BMI, diabetes, and lipid levels.

The paper analyzes cryptic relatedness in a large exome cohort, identifies numerous close relationships, reconstructs pedigrees, and demonstrates their utility in improving mutation phasing and identifying de novo mutations.