Publications by authors named "Shrutikaa Kale"
Article Synopsis
- Current diagnostic methods for lysosomal storage disorders (LSDs) in India are lengthy and expensive, relying on biochemical tests and DNA sequencing, which often yield low results due to overlapping symptoms.
- Researchers have created a novel, cost-effective sequencing assay using single-molecule molecular inversion probes (smMIPs) that accurately identifies genetic variants linked to 29 common LSDs.
- The new assay showed a high diagnostic yield of 83.4% in patients with previous biochemical diagnoses and effectively detected rare diseases like Niemann-Pick type C, outperforming traditional methods and allowing for flexible use with different sample types.
The significance of EGFR targeted therapy in the lung adenocarcinoma is paramount. Several controlled clinical trials have reported considerable survival of EGFR mutation positive patients on receiving the EGFR tyrosine kinase inhibitor (TKI). However, the real-world evidence of benefits of EGFR TKI would be further useful to understand how the designated therapeutic regimen benefits the patients.
View Article and Find Full Text PDFThe speed, accuracy, and increasing affordability of next-generation sequencing (NGS) have revolutionized the advent of precision medicine. To date, standardized validation criteria for diagnostic accreditation do not exist due to variability across the multitude of NGS platforms and within NGS processes. In molecular diagnostics, it is necessary to ensure that the primary material of the FFPE sample has good quality and optimum quantity for the analysis, otherwise the laborious and expensive NGS test may result in unreliable information.
View Article and Find Full Text PDF