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Bioinformatics (Oxford, England)
|
June 12, 2021
MecCog: a knowledge representation framework for genetic disease mechanism
Kunal Kundu, Lindley Darden, John Moult
Human Mutation
|
May 18, 2017
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants
Lipika R Pal, Kunal Kundu, Yizhou Yin, et al.
Human Mutation
|
May 18, 2017
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease
Lipika R Pal, Kunal Kundu, Yizhou Yin, et al.
Plos Computational Biology
|
December 27, 2018
Harnessing formal concepts of biological mechanism to analyze human disease
Lindley Darden, Kunal Kundu, Lipika R Pal, et al.
Human Mutation
|
May 26, 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
Yizhou Yin, Kunal Kundu, Lipika R Pal, et al.
Human Mutation
|
November 5, 2019
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, Kunal Kundu, Yizhou Yin, et al.
Human Mutation
|
May 13, 2017
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge
Kunal Kundu, Lipika R Pal, Yizhou Yin, et al.
Journal of Clinical Immunology
|
February 14, 2015
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)
Jay P Patel, Jennifer M Puck, Rajgopal Srinivasan, et al.
Human Mutation
|
June 12, 2019
Assessment of methods for predicting the effects of PTEN and TPMT protein variants
Vikas Pejaver, Giulia Babbi, Rita Casadio, et al.
Blood Advances
|
September 3, 2025
Early clearance of circulating tumor DNA and association with odronextamab response in relapsed/refractory FL and DLBCL
Jon E Arnason, Matthew J Matasar, Stefano Luminari, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Bioinformatics (Oxford, England)
|
June 12, 2021
MecCog: a knowledge representation framework for genetic disease mechanism
Kunal Kundu, Lindley Darden, John Moult
Human Mutation
|
May 18, 2017
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants
Lipika R Pal, Kunal Kundu, Yizhou Yin, et al.
Human Mutation
|
May 18, 2017
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease
Lipika R Pal, Kunal Kundu, Yizhou Yin, et al.
Plos Computational Biology
|
December 27, 2018
Harnessing formal concepts of biological mechanism to analyze human disease
Lindley Darden, Kunal Kundu, Lipika R Pal, et al.
Human Mutation
|
May 26, 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
Yizhou Yin, Kunal Kundu, Lipika R Pal, et al.
Human Mutation
|
November 5, 2019
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, Kunal Kundu, Yizhou Yin, et al.
Human Mutation
|
May 13, 2017
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge
Kunal Kundu, Lipika R Pal, Yizhou Yin, et al.
Journal of Clinical Immunology
|
February 14, 2015
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)
Jay P Patel, Jennifer M Puck, Rajgopal Srinivasan, et al.
Human Mutation
|
June 12, 2019
Assessment of methods for predicting the effects of PTEN and TPMT protein variants
Vikas Pejaver, Giulia Babbi, Rita Casadio, et al.
Blood Advances
|
September 3, 2025
Early clearance of circulating tumor DNA and association with odronextamab response in relapsed/refractory FL and DLBCL
Jon E Arnason, Matthew J Matasar, Stefano Luminari, et al.
Page
of 2