Found 12 results
Filters: Author is Kundu, Kunal [Clear All Filters]
Assessment of methods for predicting the effects of PTEN and TPMT protein 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 .
Harnessing formal concepts of biological mechanism to analyze human disease. PLoS Comput Biol. 2018 ;14(12):e1006540..
3Lessons from the CAGI-4 Hopkins clinical panel challenge. Hum Mutat. 2017 .
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. Hum Mutat. 2017 ..
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. Hum Mutat. 2017 ..
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. Hum Mutat. 2017 ..
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. Hum Mutat. 2017 ..