Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

Conclusions
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.

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Abuli, A., Costa-Roger, M., Codina-Sola, M., Valenzuela, I., Leno-Colorado, J., Rovira-Moreno, E., Cueto-Gonzalez, A., Fernandez-Alvarez, P., Garcia-Arumi, E., Cusco, I., Tizzano, E. F. Tags: Screening Source Type: research