Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
Anna AbulíMar Costa-RogerMarta Codina SolàMaria Irene Valenzuela PalafollJordi Leno-ColoradoEulàlia Rovira-MorenoAnna Maria Cueto-GonzálezPaula Fernandez-AlvarezElena Garcia-ArumíIvon CuscoEduardo F TizzanoPublished in: Journal of medical genetics (2022)
Our results demonstrate that ES outperforms panel-based screening in a PCS context in consanguineous couples and could potentially increase their reproductive autonomy and facilitate informed decision-making.