Publications by authors named "Amir Muhammadzadeh"
Manual interpretation of variants remains rate limiting in precision oncology. The increasing scale and complexity of molecular data generated from comprehensive sequencing of cancer samples requires advanced interpretative platforms as precision oncology expands beyond individual patients to entire populations. To address this unmet need, we introduce a Platform for Oncogenomic Reporting and Interpretation (PORI), comprising an analytic framework that facilitates the interpretation and reporting of somatic variants in cancer.
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- * Previous treatments, particularly DNA-damaging chemotherapy and mutations in DNA repair genes, were linked to increased mutations across the genome, indicating therapy-related changes.
- * Findings reveal that specific genetic alterations and mutation patterns can predict responses to treatments and overall patient survival, emphasizing the potential of this dataset for future cancer research and clinical applications.
Summary: Reliably identifying genomic rearrangements and interpreting their impact is a key step in understanding their role in human cancers and inherited genetic diseases. Many short read algorithmic approaches exist but all have appreciable false negative rates. A common approach is to evaluate the union of multiple tools increasing sensitivity, followed by filtering to retain specificity.
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