Differential expression of long non-coding RNAs (lncRNAs) and enhancer RNAs (eRNAs) are used to diagnose diseases including neurological diseases, inflammatory diseases, rheumatic diseases, and autoimmune diseases. Machine learning systems are used to identify lncRNAs or eRNAs having differential expression correlated with certain disease states.

The present invention is related to an improved method for HER2 gene test by using quantitative real-time PCR (Polymerase Chain Reaction) technique. Our invention streamlines test process, and incorporates quality control for each major step, including sample, reagent, operation, and data report. We eliminate the need for reference genes which is hard to standardize in HER2 PCR test. We develop a cutoff reference point by using the statistical mean of tumor tissue population, and adopt a simplified scoring scheme for evaluation of HER2 status. Our invention produces consistent result across machines and labs, and has proven to be clinically successful in HER2 test.

The present invention provides methods and compositions involving microbiome signatures and their association with oral complications of cancer therapy.

The present invention relates to methods of identifying and using risk factors for estimating aneurysm expansion, including high risk expansion in abdominal aortic aneurysm patients, such factors including associated genetic variants and gender differences. In particular, methods of using genetic risk scores and/or patient genotypes are provided for use, including individualizing surveillance for reducing AAA, reducing growth rates of AAA and reducing rates of aneurysm ruptures.

Disclosed herein are assays and methods for the identification of premalignant lesions, as well as methods of determining the likelihood that such premalignant lesions will progress to lung cancer. Also disclosed are methods and assays that are useful for monitoring the progression of premalignant lesions to lung cancer. The assays and methods disclosed herein provide minimally invasive means of accurately detecting and monitoring the presence or absence of premalignant lesions, thus providing novel insights into the earliest stages of lung cancer and facilitating early detection and early intervention.

This invention relates generally to compositions and methods for identifying genes and gene networks that respond to, modulate, control or otherwise influence tumors and tissues, including cells and cell types of the tumors and tissues, and malignant, microenvironmental, or immunologic states of the tumor cells and tissues. The invention also relates to methods of diagnosing, prognosing and/or staging of tumors, tissues and cells, and provides compositions and methods of modulating expression of genes and gene networks of tumors, tissues and cells, as well as methods of identifying, designing and selecting appropriate treatment regimens.

Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.

Provided is a biomarker for bipolar disorder, comprising Syt7 gene and/or an expression product thereof. Also provided is use of the Syt7 gene and/or the expression product thereof in the preparing a medicament for treating bipolar disorder. By monitoring the Syt7 gene and/or the expression product thereof, medicaments for treating bipolar disorder can be screened, thus providing support for diagnosis and treatment targeting Syt7 molecules.

A marker composition, a kit, a gene panel, and a method which are for providing information for predicting the occurrence of, diagnosing, or treating age-related macular degeneration are disclosed. The marker composition, kit, gene panel, and method are novel tools that can provide information for predicting the occurrence of, diagnosing, or treating age-related macular degeneration, and has excellent sensitivity and can be easily analyzed without the use of a biopsy, and thus can be effectively used for the early diagnosis of age-related macular degeneration.

The subject matter of the present invention is a method for the diagnosis or prognosis, in vitro, of lung cancer, which includes a step of detecting at least one expression product of at least one HERV nucleic acid sequence, a method for use of said nucleic acid sequences, which have been isolated, as a molecular marker or molecular markers, and a kit including at least one binding partner specific for at least one of the expression products of the HERV nucleic acid sequences.