Open access
Aug 2026
Decoupling of allele frequency and predicted pathogenicity in the tandem repeat filaggrin (FLG) gene
It is demonstrated that variant interpretation in large tandem repeats requires explicit integration of repeat structure and population history, which has implications for ancestry-aware assessment of FLG variation and for the broader analysis of repetitive genes in human disease genetics.
Xuanzhe Zhu, Keshuo Luo, Xindi Zou et al.
· Scientific Reports · 0 citations