GenesHumansGenetic Carrier ScreeningGenomicsFemalePregnancy
Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.
Lucrezia Pilenzi, Vincenzo Scorrano, Sara Di Rado, Carlotta Buccolini, Roberta Giansante, Laura Siciliani, Liborio Stuppia, Valentina Gatta, Antonio Capalbo
Published: 202610.3390/genes17010058
Abstract
Expanded carrier screening (ECS) has emerged as a cornerstone of reproductive genetics, enabling the identification of couples at risk of transmitting autosomal recessive and X-linked disorders. Advances in next-generation sequencing and the increasi…
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