Author

Sitharthan Kamalakaran

AstraZeneca (United Kingdom)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Assay:whole-exome sequencing· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Slavé PetrovskiiD· 3 shared Alexandra MacDonaldiD· 2 shared Amos D. KorczyniD· 2 shared Andrea Byrnes· 2 shared Annika Rademacher· 2 shared Anthony Guy MarsoniD· 2 shared Brigid M. ReganiD· 2 shared Caitlin A. BennettiD· 2 shared

Activity by Year

2018-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Slavé PetrovskiORCID

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4 papers

Recent·Most cited

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine C. Tashman, Felecia E. Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, , Christian Hengsbach

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

EBioMedicine · Sep 24, 2021Peer-reviewedGenomics

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine C. Tashman, Felecia E. Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire L. Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, , Ingo Borggräfe

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

The American Journal of Human Genetics · Jul 18, 2019Peer-reviewedGenetics

Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional Intolerance

Tristan J. Hayeck, Nicholas Stong, Charles J. Wolock, Brett R. Copeland, Sitharthan Kamalakaran, David B. Goldstein, Andrew S. Allen

The paper improves pathogenic variant localization by using a hierarchical Bayesian model to estimate sub-regional intolerance, showing better performance in identifying ClinVar pathogenic variants and improving classification of de novo missense variants.

The American Journal of Human Genetics · Jan 24, 2019Peer-reviewedGenetics

Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease

Neha S. Raghavan, Adam M. Brickman, Howard Andrews, Jennifer Jaie Manly, Nicole Schupf, Rafael Lantigua, The Alzheimer’s Disease Sequencing Project, Charles J. Wolock, Sitharthan Kamalakaran, Slavé Petrovski, Giuseppe Tosto, Badri Narayan Vardarajan, David B. Goldstein, Richard P Mayeux

The paper uses whole exome sequencing in 20,197 individuals to identify rare variants associated with Alzheimer's disease, finding significant associations with SORL1 loss-of-function variants.

bioRxiv · Apr 23, 2018 · PreprintGenetics