MecCog provides a framework to structure and integrate genetic disease mechanisms from diverse sources, enabling the creation and sharing of mechanism schemas.

Bioinformatics · Jun 11, 2021Peer-reviewedSystems Biology

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

Uma Sunderam, Aashish N. Adhikari, Kunal Kundu, Jennifer M. Puck, Robert J. Currier, Pui–Yan Kwok, Steven E. Brenner, Rajgopal Srinivasan

This study evaluates the quality of exome sequencing from DNA extracted from dried blood spots (DBS) and finds it comparable to whole blood, with similar variant calling accuracy.

bioRxiv · May 19, 2020 · PreprintGenomics

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, John Moult

The paper identifies potential causative variants in rare genetic disorders using a gene-centric approach and phenotype-weighted scoring, achieving partial success in matching genomes to clinical profiles.

Human Mutation · Nov 3, 2019Peer-reviewedGenomics

Harnessing formal concepts of biological mechanism to analyze human disease

Lindley Darden, Kunal Kundu, Lipika R. Pal, John Moult

This paper introduces a formal framework for representing biological mechanisms and applies it to analyze human genetic disease mechanisms.

PLoS Computational Biology · Dec 26, 2018Peer-reviewedSystems Biology