Sathishkumar Ramaswamy

The paper introduces AVDB, a database of genetic variants from Arab populations, providing pathogenicity classifications and disease burden metrics to improve genomic screening and diagnostics.

The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.

This study identifies IFIH1 loss-of-function variants in patients with inflammatory and SARS-CoV-2-related diseases, showing impaired immune responses and increased susceptibility.

This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.

This study identifies rare genetic variants associated with severe COVID-19 in young Asian and Middle Eastern patients using whole exome sequencing.

The paper interprets all possible single-nucleotide substitution variants in the GJB2 gene, classifies them by pathogenicity, and identifies genotype-phenotype correlations in hearing loss.

This study identifies rare genetic variants in MIS-C patients from the Middle East, linking them to disease onset and treatment resistance.

The paper highlights the importance of Middle Eastern genetic variation in improving clinical genome annotation and variant interpretation by presenting a new database with unique variants not found in existing resources.

The paper identifies molecular signatures and dysregulated pathways in COVID-19 patients with varying disease severity using transcriptome sequencing of nasopharyngeal swabs.

The paper analyzes SARS-CoV-2 genome sequences from Dubai to show multiple introductions from Asia, Europe, and the Middle East during the early pandemic and identifies new mutations.

This study compares whole genome sequencing methods for SARS-CoV-2, showing improved detection and cost-effectiveness with target enrichment.