Protean Presents Multiple Abstracts at AMP
Protean congratulates Roy Khalife, and Saar Peles on their research, presented at November’s AMP meeting.
Molecular Discrepancies in Gastric Cancer between Asians and White Populations
Saar Peles, Roy Khalife, Sanjan Kumar, and Anthony Magliocco
AMP Conference. Nov 16-18 2023, #G021
Gastric cancer is a malignant tumor arising from the stomach lining. Gastric cancer’s increased prevalence among Asian peoples has long been attributed to infections by Helicobacter Pylori and high nitrate and salt diets. With efforts to screen the public in Asian countries and improved gene mapping, molecular differences in gastric cancers between Asians and Whites may reveal new gene targets for therapy.
Comparing Classifications from Multiple Variant Annotation Software Solutions Using Real-World Next Generation Sequencing Data from Oncology Testing
Roy Khalife, Tara M. Love, Lara Sucheston-Campbell, Michael J. Clark, Helle Sorensen, Shuba Krishna, and Anthony Magliocco
J. Mol. Pathol. 2024, 5(1), 81-95; https://doi.org/10.3390/jmp5010006
Variant annotation is an important step in deciphering the functional impact of genomic variants and their association with diseases. In this study, we analyzed 80 pan-cancer cases that underwent comprehensive genomic testing and compared the auto-classified variant tiers among four globally-available software solutions for variant interpretation from Roche, SOPHiA GENETICS, QIAGEN, and Genoox. The results revealed striking differences in tier classifications, which are believed to be a result of several factors, including subjectivity in the AMP/ASCO/CAP guidelines, threshold settings for variant allele frequencies and population allele frequencies, as well as variation in disease ontologies. Although the software tools described here provide a time-saving and repeatable process for interpretation of genomic data, it is crucial to understand the nuances and various settings for these solutions, as they can strongly influence variant tier classifications and downstream management.
For further information, please contact:
Anthony Magliocco MD
CEO & President of Protean BioDiagnostics
Email: info@proteanbiodx.com
Phone: 1 (813) 817 2042
About Protean BioDiagnostics:
Protean BioDiagnostics is revolutionizing modern healthcare with our Protean MAPS™ system, which integrates health screening, diagnostics, treatment guidance, and tele-medicine backed decision support.
We collaborate with physicians and health groups to support them in providing the best possible care for their patients, regardless of where they live.