Research Interests

DNA present within cells, collectively known as the genome, is the instruction manual read by the cellular machinery to live and function. My lab is interested in understanding how the variation in genomes of Indians predisposes them to disparities in health and disease. We study this at two levels.

First, we identify genetic variation of individuals using cutting-edge high throughput sequencing technologies. As part of large nation-wide population genomics programs, we map the natural variation in healthy genomes. In particular, our interests lie in two classes of variations known as structural variations and tandem repeats.

We also study how the same DNA sequence can give rise to different phenotypes, as observed in various cell types of a single organism. Despite having an identical genome, cells can be regulated differently via epigenetic mechanisms that result in cell specific gene expression patterns. Recent long-read sequencing methods enable us to identify DNA methylation, an epigenetic mark, concurrently with the genetic sequence. We leverage this technological advantage to study the interplay of genetic variation and DNA methylation. Similarly, using single cell genomic technologies, we analyze the gene expression and epigenetic profiles of various cells to understand cell heterogeneity.

Finally, we develop new computational methods that enable faster and better analysis of complex biological data, as well as more interactive and intuitive data visualization.

Selected Publications

Comprehensive benchmarking of tools for nanopore-based detection of DNA methylation
Kulkarni O, Mathew RJ, Jana R, Zaveri L, Ara S, Nagabandi T, Singh NK, Tallapaka KB, Sowpati DT*
Nat Commun, 2026. DOI: 10.1038/s41467-026-75183-6

Genomic insights into antimicrobial resistance in ocular pathogens from India
Kumar VS, Pandiyan A, Bhagat R, Kumar A, Mathew RJ, Ara S, Punde AR, Laveti L, …, Garg P, Sowpati DT*, Joseph J*, Tallapaka KB*
Commun Biol, 2026. DOI: 10.1038/s42003-026-09952-w

Metagenomic profiling of antimicrobial resistance in wastewater from metropolitan cities of India
Singh NK, Garg P, Kumari S, Banda L, Patel AM, Sindhuja RH, Bhandari Y, Khan NA, …, Mishra RK, Sowpati DT*, Siva AB*, Tallapaka KB*
Nat Commun, 2026. DOI: 10.1038/s41467-026-70702-x

An Atlas of Indian Genetic Diversity
Subramanian K, Bhattacharyya C, Machha P, Mukherjee A, Tripathi D, Chakraborty S, Majumdar SS, Sengupta S, …, GenomeIndia Consortium, …, Sowpati DT*, Faruq M*, Kahali B*, Basu A*
medRxiv, 2026. DOI: 10.64898/2026.03.20.26348801

ATaRVa: Analysis of Tandem Repeat Variation from Long Read Sequencing data
Sivakumar AK, Sudarsanam S, Sharma A, Krishnavajjhala SS, Dashnow H, Avvaru AK*, Sowpati DT*
bioRxiv, 2026. DOI: 10.1101/2025.05.13.653434

Mapping genetic diversity with the GenomeIndia project
Bhattacharyya C, Subramanian K, Uppili B, Biswas NK, Ramdas S, Tallapaka KB, Arvind P, Rupanagudi KV, …, Sowpati DT*, Faruq M*, Basu A*, Kahali B*
Nat Genet, 2025. DOI: 10.1038/s41588-025-02153-x

Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events
Machha P, Gopalan A, Elangovan Y, Veeravalli SCM, Sowpati DT, Thangaraj K*
J Genet Genomics, 2025. DOI: 10.1016/j.jgg.2025.02.001