Population genetic screening efficiently identifies carriers of autosomal dominant diseases
Dec 10, 2025
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
Grzymski, J. J., Elhanan, G., Morales Rosado, J., Smith, E., Schlauch, K. A., Read, R. W., Rowan, C., Slotnick, N., Dabe, S., Metcalf, W. J., Lipp, B. G., Reed, H. W., Sharma, L., Levin, E., Kao, J., Rashkin, M., Bowes, J., Dunaway, K., Slonim, A., Washington, N., et al. (2020).
Population genetic screening efficiently identifies carriers of autosomal dominant diseases,
Nature Medicine, 26 (8), 1235-1239,
10.1038/s41591-020-0982-5