Found 5 results
Filters: Author is Andreoletti, Gaia [Clear All Filters]
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 .
Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016. Hum Mutat. 2019 .
Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5. Hum Mutat. 2019 .
Reports from CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2017 ;38(9):1039-1041..