RT Journal Article
SR Electronic
T1 The overdue promise of short tandem repeat variation for heritability
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 006387
DO 10.1101/006387
A1 Maximilian O. Press
A1 Keisha D. Carlson
A1 Christine Queitsch
YR 2014
UL http://biorxiv.org/content/early/2014/06/18/006387.abstract
AB Short tandem repeat (STR) variation has been proposed as a major explanatory factor in the heritability of complex traits in humans and model organisms. However, we still struggle to incorporate STR variation into genotype-phenotype maps. Here, we review the promise of STRs in contributing to complex trait heritability, and highlight the challenges that STRs pose due to their repetitive nature. We argue that STR variants are more likely than single nucleotide variants to have epistatic interactions, reiterate the need for targeted assays to accurately genotype STRs, and call for more appropriate statistical methods in detecting STR-phenotype associations. Lastly, somatic STR variation within individuals may serve as a read-out of disease susceptibility, and is thus potentially a valuable covariate for future association studies.