Kunal Kundu

发表

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge

Lipika R. Pal, J. Moult, Kunal Kundu, 2020, Human mutation.

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge

Lipika R. Pal, J. Moult, Kunal Kundu, 2019, bioRxiv.

CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants

Lipika R. Pal, J. Moult, Kunal Kundu, 2017, Human mutation.

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

Silvio C. E. Tosatto, Stephen J. Wilson, Lipika R. Pal, 2019, Human mutation.

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Aashish N. Adhikari, Lipika R. Pal, J. Gough, 2019, Human mutation.

Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge

Lipika R. Pal, J. Moult, Kunal Kundu, 2017, Human mutation.

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

Lipika R. Pal, J. Moult, Kunal Kundu, 2017, Human mutation.

The role of exome sequencing in newborn screening for inborn errors of metabolism

Aashish N. Adhikari, R. Srinivasan, N. Risch, 2020, Nature Medicine.

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Lipika R. Pal, Yaoqi Zhou, P. Radivojac, 2019, Human mutation.

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Silvio C. E. Tosatto, Alexander A. Morgan, Yanay Ofran, 2017, Human mutation.

Molecular characterization of bixin - an important industrial product.

V. Kumar, Kunal Kundu, R. Siva, 2010 .

Lessons from the CAGI‐4 Hopkins clinical panel challenge

Hugo Y. K. Lam, David T. Jones, Aashish N. Adhikari, 2017, Human mutation.

MecCog: A knowledge representation framework for genetic disease mechanism

Lindley Darden, John Moult, Kunal Kundu, 2020, bioRxiv.

Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016

Roland L. Dunbrack, Colby T. Ford, David T. Jones, 2019, Human mutation.

CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease

Lipika R. Pal, J. Moult, Kunal Kundu, 2017, Human mutation.

Harnessing formal concepts of biological mechanism to analyze human disease

Lindley Darden, John Moult, Kunal Kundu, 2018, bioRxiv.

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

R. Srinivasan, S. Brenner, J. Puck, 2015, Journal of Clinical Immunology.

DNA from dried blood spots yields high quality sequences for exome analysis

Aashish N. Adhikari, R. Srinivasan, P. Kwok, 2020, bioRxiv.

The Product Guides the Process: Discovering Disease Mechanisms

Lindley Darden, John Moult, Kunal Kundu, 2018 .

Human Mutation

Guillermo del Angel, Lipika R. Pal, P. Radivojac, 2019 .

Human Mutation

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

Human Mutation

Lipika R. Pal, J. Moult, Kunal Kundu, 2020 .