Overview

Kartik is a postdoctoral research fellow at the University of Exeter Medical School working on the new Wellcome Trust funded PARADIGM project. His research focuses on the genetics of rare developmental disorders. His current research focuses on the use of long-read RNA sequencing data of developing brain to improve burden testing methodology and deepen our understanding of the genetics underlying developmental disorders.

Kartik has a background in physics, before undertaking a PhD at the University of Queensland in Australia where he worked on the genetics of DNA methylation. He went on to work at the Wellcome Sanger Institute where he began working on developmental disorders, leading an international collaboration studying recessive coding variation across large cohorts.

Qualifications

• PhD Quantitative Genetics, University of Queensland
• MSc Computational Methods in Ecology and Evolution, Imperial College London
• BA Theoretical Physics, Trinity College Dublin

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Research

Research interests

Kartik studies the effect of damaging variants on development. He is interested in improvement of variant interpretation, improving methodology for pathogenicity prediction, and understanding the penetrance of rare damaging variants.

Research projects

• PARADIGM
• Deciphering Developmental Disorders Study (www.ddduk.org)

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