Bharathram Uppili

An Atlas of Indian Genetic Diversity

The paper presents a comprehensive genomic atlas of Indian populations, identifying novel variants and highlighting genetic diversity and pharmacogenomic implications.

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

The paper investigates the prevalence and association of RFC1 tandem nucleotide repeat expansions with neurodegenerative diseases in an Indian cohort.

Computational and experimental hunt for expansion prone tandem CNG repeats in human genomes

The paper combines computational and experimental methods to identify CNG repeat loci potentially linked to spinocerebellar ataxias, finding polymorphic patterns and expression in brain-related genes.

Accurate and simple FXN-GAA repeats (Friedreich ataxia loci) estimation by long read targeted sequencing.

The paper introduces a method for accurately estimating GAA repeats in Friedreich ataxia using long-read targeted sequencing, achieving high coverage and throughput.

Spatio-temporal dynamics of intra-host variability in SARS-CoV-2 genomes

The paper analyzes intra-host Single Nucleotide Variations (iSNVs) in SARS-CoV-2 genomes across multiple time points and regions, finding that many iSNVs later become population-level variants and some may contribute to immune escape.