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: The disclosure provides methods and systems for detecting alternative splicing variants in a patient sample. The methods involve comparison of splice junction data from RNA sequencing with principal splicing isoforms and identifying those sequences, identifying those sequences that do not match the principal splicing isoform. These sequences are categorized into alternative splicing events and documented. Optionally, previously identified target sequences can be utilized in the comparison where the method seeks sequences which do match. Other methods and systems of the present disclosure include those for building a splice profile of alternative splicing variants for a patient sample and those for developing a companion diagnostic test for a treatment method of a disease based on the presence or absence of alternative splicing variants in a patient sample.

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: Systems and methods are provided for determining a cancer type of a somatic tissue in a subject. A first plurality of sequence reads is obtained from a plurality of RNA molecules in a biopsy of the subject. A first set of sequence features comprising relative miRNA abundance values of genes is determined from the first plurality of sequence reads. Sequence features are applied to a classification model trained to distinguish between each cancer type in a set of at least 50 cancer types, thus determining the cancer type of the somatic tissue in the subject. The classification model provides an indication that the somatic tissue is or is not a respective cancer type, and the set of cancer types includes at least two cancer types from one or more classes of cancer selected from the group consisting of hematological cancers, squamous cancers, endometrial cancers, sarcoma cancers, and neuroendocrine cancers.

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: A platform to perform normalization and correction on gene expression datasets and combines different datasets into a standard dataset using a framework configured to continuously incorporate new gene expression data. The framework determines a series of conversion factors that are used to on-board new gene expression datasets, such as unpaired datasets, where these conversion factors are able to correct for variations in data type, variations in gene expressions, and variations in collection systems.