This month in The Journal

Population cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, investigations including TRs employ genotyping tools that rely on TR reference catalogs. However, existing catalogs differ substantially in both the number and definitions of TRs, as well as compatible data types and genotyping tools. This lack of standardization makes it difficult to unify results across studies and limits discovery.