Found 11 results
Filters: Author is Brenner, Steven E [Clear All Filters]
Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants. Hum Mutat. 2019 .
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 .
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 .
Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5. Hum Mutat. 2019 .
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. Hum Mutat. 2017 .
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Hum Mutat. 2017 .
Reports from CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2017 ;38(9):1039-1041..
Outcome of a workshop on applications of protein models in biomedical research. Structure. 2009 ;17(2):151-9.