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Open access Sep 2026

GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data

Background Whole-exome sequencing is a widely used technology to identify pathogenic variants in cancer. Although sequencing itself has become increasingly accessible, downstream analysis remains computationally complex, presenting a challenge for many researchers. Existing pipelines lack integrated support for somatic...

Nicholas E. Bambach, J. Ricarte-Filho, E. R. Reichenberger et al. · 0 citations
Open access Sep 2026

Distinct molecular profiles of indeterminate and malignant thyroid nodules in patients under 21 years of age.

Although uncommon, thyroid nodules (TN) in pediatric and young adult patients carry higher malignancy risk and often present with a high burden of metastatic disease than adults. The molecular features underlying this distinct clinical behavior remain unclear. We analyzed Afirma Genomic Sequencing Classifier (GSC) data...

J. Ricarte-Filho, L. Castellanos, Steven G. Waguespack et al. · 0 citations

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