Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE
Giampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso…·Adrian Daly
The paper evaluates the bioinformatic tool POSTRE to distinguish pathogenic from benign GPR101 duplications associated with X-LAG by analyzing enhancer hijacking in a tissue-specific context.