Abstract: Systems and methods are provided for identifying a diagnosis of a cancer condition for a somatic tumor specimen of a subject. The method receives sequencing information comprising analysis of a plurality of nucleic acids derived from the somatic tumor specimen. The method identifies a plurality of features from the sequencing information, including two or more of RNA, DNA, RNA splicing, viral, and copy number features. The method provides a first subset of features and a second subset of features from the identified plurality of features as inputs to a first classifier and a second classifier, respectively. The method generates, from two or more classifiers, two or more predictions of cancer condition based at least in part on the identified plurality of features. The method combines, at a final classifier, the two or more predictions to identify the diagnosis of the cancer condition for the somatic tumor specimen of the subject.

Abstract: Techniques are provided for replacing image assays using real world data and real word evidence RNA-seq analysis for assessing biologic pathways for identifying molecular subtypes. Systems of a methods diagnose HER2 status for a patient, by identifying discordant HER2 status result between the HER2 status from immunohistochemistry (IHC) and the HER2 status from fluorescence in-situ hybridization (FISH) and diagnosing HER2 status based gene expression data.

Abstract: Techniques are provided for replacing image assays using real world data and real word evidence RNA-seq analysis for assessing biologic pathways for identifying molecular subtypes. Systems of a methods diagnose HER2 status for a patient, by identifying discordant HER2 status result between the HER2 status from immunohistochemistry (IHC) and the HER2 status from fluorescence in-situ hybridization (FISH) and diagnosing HER2 status based gene expression data.

Abstract: Techniques for analysis of gene expression data contained in real world data and real word evidence for assessing biologic pathways for identifying molecular subtypes are provided. Systems and methods include, for a plurality of biological pathways, determining a pathway score using gene expression data and determining of summary score for the plurality of biological pathways. That summary score may be compared to one or more enrichment scores each associated with a pre-determined molecular subtype. A molecular subtype is determined based on that comparison. Various heuristics may be applied to filter pathways before summary scoring.

Abstract: Techniques are provided for replacing image assays using real world data and real word evidence RNA-seq analysis for assessing biologic pathways for identifying molecular subtypes. Systems of a methods diagnose HER2 status for a patient, by identifying discordant HER2 status result between the HER2 status from immunohistochemistry (IHC) and the HER2 status from fluorescence in-situ hybridization (FISH) and diagnosing HER2 status based gene expression data.

Abstract: Techniques for analysis of gene expression data contained in real world data and real word evidence for assessing biologic pathways for identifying molecular subtypes are provided. Systems and methods include, for a plurality of biological pathways, determining a pathway score using gene expression data and determining of summary score for the plurality of biological pathways. That summary score may be compared to one or more enrichment scores each associated with a pre-determined molecular subtype. A molecular subtype is determined based on that comparison. Various heuristics may be applied to filter pathways before summary scoring.