Ankit Kumar Pathak

This study combines MAVEs and population-free VEPs to improve variant classification across ancestries in hereditary cancer genes, reclassifying over 90% of variants of uncertain significance.

This study evaluates ancestry bias in variant effect predictors and finds disparities in their performance across different populations.

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.

The paper identifies mutational patterns in SARS-CoV-2 spike protein using genomic and structural data, finding structural changes that may affect vaccine efficacy.

The paper identifies long-range chromatin interactions of the PRE-PIK3C2B region using 4C-Seq and validates them with 3C-PCR, showing enrichment of repressive marks and association with LINE/SINE repeats.

The paper identifies 423 population-invariant genes across 60,706 human genomes, finding many are X-linked, non-expressed, and associated with disease.

The paper integrates centenarian genomes and spatio-temporal expression profiles to identify potential drug targets for schizophrenia, suggesting repurposed therapies for neuropsychiatric disorders.