GeneticsbioRxivPreprint
Global prevalence of potentially pathogenic short-tandem repeats in an epilepsy cohort
Claudia Moreau, Jacques L. Michaud, Fadi F. Hamdan…·Simon Girard
The paper identifies a potential pathogenic STR expansion in an epilepsy cohort using whole genome sequencing and three software tools, highlighting discrepancies in variant calling.
2 citations