Author

Tapas Kumar Mondal

McMaster Children's HospitalORCID 0000-0003-2077-1710Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Erwin Notker OechsliniD· 3 shared Jane LougheediD· 3 shared Robert LesurfiD· 3 shared Adam P GiessiD· 2 shared Afshan SiddiqiD· 2 shared Alexander SieghartiD· 2 shared Alona SosinskyiD· 2 shared Anna C. NeediD· 2 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Erwin Notker OechslinORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 14, 2024

A validated heart-specific model for splice-disrupting variants in childhood heart disease

Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester…·Seema R. Mital

The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.

11 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicineJournal of Cardiovascular Translational ResearchPeer-reviewedJul 21, 2023

Age and Sex Differences in the Genetics of Cardiomyopathy

Oyediran Akinrinade, Robert Lesurf, John C. Ambrose…·Seema R. Mital

This study identifies genetic differences between pediatric and adult cardiomyopathy, finding more constrained variants in childhood cases and female patients.

32 citationstop 3%

humanwhole-genome sequencing

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Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedMar 14, 2022

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade…·R. Sultana

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

46 citationstop 2%

humanwhole-genome sequencing

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