Shimul Chowdhury

Validation of a Pancreatic Cancer Detection Test in New-Onset Diabetes Using Cell-Free DNA 5-Hydroxymethylation Signatures

This paper validates a pancreatic cancer detection test using 5-hydroxymethylation signatures in cell-free DNA from patients with new-onset diabetes, showing high specificity and moderate sensitivity.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

An interlaboratory study of complex variant detection

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.