Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Conclusion
Reverse phenotyping improves the rate of successful molecular diagnosis for unsolved 100K participants with primary ciliopathies. Previous analyses likely missed these diagnoses because incomplete HPO term entry led to incorrect gene panel choice, meaning that pathogenic variants were not prioritised. Better phenotyping data are therefore essential for accurate variant interpretation and improved patient benefit.

Source: Journal of Medical Genetics - November 22, 2022 Category: Genetics & Stem Cells Authors: Best, S., Yu, J., Lord, J., Roche, M., Watson, C. M., Bevers, R. P. J., Stuckey, A., Madhusudhan, S., Jewell, R., Sisodiya, S. M., Lin, S., Turner, S., Robinson, H., Leslie, J. S., Baple, E., Genomics England Research Consortium, Toomes, C., Inglehearn, C Tags: Open access Developmental defects Source Type: research