Divya Kalra

The paper reports new TUBB2B variants in multiple families, expanding the clinical and molecular spectrum of tubulinopathies and highlighting phenotypic heterogeneity and dual molecular diagnoses.

This study evaluates somatic variant calling in normal tissues using single-cell RNA and ATAC sequencing, showing Monopogen outperforms other tools in accuracy and sensitivity.

This study analyzes multi-omics data from two spaceflight missions to identify molecular changes in immune, skeletal, and vascular systems, providing insights for mitigating health risks during space travel.

The paper benchmarks somatic variant and indel detection at low allele fractions using short- and long-read data, finding sensitivity and precision around 80% at 300x coverage.

The paper analyzes variant classification disparities between European-like and non-European-like genetic ancestries and shows that MAVE data can reduce these disparities in VUS reclassification.

The paper introduces genomic stratifications for human reference genomes GRCh37, GRCh38, and T2T-CHM13v2.0 to benchmark variant caller performance in difficult regions.

The paper assesses pharmacogenomic variation and medication exposures in a diverse cohort using whole genome sequencing and EHR data, finding high prevalence of actionable variants and previously unreported alleles.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

The paper analyzes gene and protein domain content changes across 76 arthropod genomes to understand evolutionary patterns and their association with phenotypic adaptations.