Abstract: Provided herein are kits, compositions and methods for cancer diagnosis, research and therapy, including but not limited to, cancer markers. In particular, the present invention relates to recurrent gene fusions (e.g., recurrent translocations involving TYK2) as diagnostic markers and clinical targets for cutaneous CD30-positive lymphoproliferative disorders (e.g., lymphomatoid papulosis; primary cutaneous anaplastic large cell lymphoma).

Abstract: A data analysis method and computer system electronically mines published articles from existing medical literature sources to discover associations that may exist between various diseases and various genes and/or gene mutations or other genetic changes. The method and system then organizes, categorizes and prioritizes the discovered associations in accordance with the strength of evidence supporting these associations. The resulting information can then be integrated into the processing of genome sequencing data to more quickly determine what genome sequencing data is of most relevance for clinical decision makings.

Abstract: Computer-implemented methods for automating identification and prioritization of genomic variants are disclosed. Such methods employ a rule set to analyze information regarding statistical frequency of variants in a dataset and metrics indicating biological relatedness to generate a priority-score indicative of the relevance of each variant in the dataset. The methods perform both variant frequency normalization and universal pairwise variant comparisons across the datasets to automatically calculate the likelihood that each variant is significant to a disease or other biological phenomenon under study. Priority-scores are calculated for the variants based upon such pairwise comparisons, and the results are organized into a priority ranking, which may be used to categorize the results into data subsets for display to a user.

Abstract: Provided herein are kits, compositions and methods for cancer diagnosis, research and therapy, including but not limited to, cancer markers. In particular, the present invention relates to recurrent gene fusions (e.g., recurrent translocations involving TYK2) as diagnostic markers and clinical targets for cutaneous CD30-positive lymphoproliferative disorders (e.g., lymphomatoid papulosis; primary cutaneous anaplastic large cell lymphoma).

Abstract: The present invention relates to methods and biomarkers for detection and characterization of Langerhans cell histiocytosis in biological samples (e.g., tissue samples, blood samples, plasma samples, cell samples, serum samples). In particular, the present invention provides compositions and methods for diagnosing a patient as having a Langerhans cell histiocytosis by identifying mutations in the MAP2K1 gene or gene products.

Abstract: Provided herein are kits, compositions and methods for cancer diagnosis, research and therapy, including but not limited to, cancer markers. In particular, the present invention relates to recurrent RNA fusions as diagnostic markers and clinical targets for leukemia.

Abstract: A data analysis method and computer system electronically mines published articles from existing medical literature sources to discover associations that may exist between various diseases and various genes and/or gene mutations or other genetic changes. The method and system then organizes, categorizes and prioritizes the discovered associations in accordance with the strength of evidence supporting these associations. The resulting information can then be integrated into the processing of genome sequencing data to more quickly determine what genome sequencing data is of most relevance for clinical decision makings.

Abstract: A genomic variant analysis method and computer system utilizing information related to variant frequency and biological consequence to determine the relative statistical significance of each variant in given genome sequence datasets. The method and system perform both variant frequency normalization and universal pairwise variant comparisons across the given genome sequence datasets to automatically identify the likelihood of any given variant as contributing to disease process or biological phenomenon under study and organize the results into a priority ranking. The priority ranking is then used to categorize the results into biologically-related data subsets for display to indicate potential for importance.

Abstract: The present invention relates to methods and biomarkers for detection and characterization of mature T-cell neoplasias/leukemias (e.g., T-cell prolymphocytic leukemia, Sezary syndrome) in biological samples (e.g., tissue samples, blood samples, plasma samples, cell samples, serum samples).

Abstract: Provided herein are kits, compositions and methods for cancer diagnosis, research and therapy, including but not limited to, cancer markers. In particular, the present invention relates to recurrent RNA fusions as diagnostic markers and clinical targets for leukemia.