Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Giada MorescoOrnella RondinoneAlessia MauriJole CostanzaCarlo SantanielloPatrizia ColapietroEmanuele MicaglioGiovanni MarfiaChiara PesentiFederico GrilliBerardo RinaldiElisabetta PradaGiulietta ScuveraRoberta VillaMaria Francesca BedeschiMonica Rosa MiozzoDonatella MilaniLaura FontanaPublished in: Genes & genomics (2022)
This study emphasizes the major limitations associated with WES data interpretation, but also highlights its clinical utility in unraveling novel genotype-phenotype correlations in complex and heterogeneous undefined clinical conditions with a suspected genetic etiology.