Systems and methods for identifying variant alleles as somatic or germline are provided. Reference and variant alleles for a genomic position are identified. Methylation states and sequences of nucleic acid fragment sequences that map to the genomic position are obtained from a sample of a subject. Using the sequences of nucleic acid fragment sequences, each nucleic acid fragment sequence that has the reference allele is assigned to a reference subset, and each nucleic acid fragment sequence that has the variant allele is assigned to a variant subset. One or more indications of the methylation states across the nucleic acid fragment sequences in the variant subset and an indication of the number of nucleic acid fragment sequences in the reference subset versus the variant subset are applied to a trained binary classifier. An identification of the variant allele at the genomic position as somatic or germline is obtained from the classifier.

In accordance with some embodiments, the present invention comprises use of a rapid and accurate QM-MSP and cMethDNA methylation marker-based assays to quickly distinguish between cancer and benign/normal tissues in a biological sample from a subject suspected of having cancer. Methods for detecting breast, colon, and lung cancers in biological samples of suspect tissues and fluids are also provided to assist in triaging subjects suspected of having cancer for expedited biopsy and pathology review in low resource settings.

Disclosed is a gene panel which can evaluate lung adenocarcinoma molecular subtype and survival risk, and an application of a reagent, which detects the gene expression level of the gene panel, in preparing a product. The product is used for determining lung adenocarcinoma molecular subtype and evaluating lung adenocarcinoma patient survival risk. The product comprises a Next-Generation Sequencing (NGS) detection reagent kit, a fluorescence quantitative PCR detection reagent kit, a gene chip and a protein microarray. Also disclosed is a method which uses the detection reagent kits to evaluate lung adenocarcinoma molecular subtype and survival risk.

The present invention relates to compositions and methods for diagnosing and treating colorectal cancer.

The present invention relates to a method for the diagnosis of a benign oncocytoma and a method to differentiate a benign oncocytoma from malignant renal cell carcinoma, a kit for use in these methods, as well as antibody relating thereto, a hybridoma cell capable of producing the same as well as the uses relating thereto.

Panels of biomarkers, methods and systems are disclosed for determining gene expression, and diagnosing and treating melanoma.

Biomarkers are provided that are predictive of a subject's responsiveness to a therapy comprising a JAK inhibitor. The biomarkers, compositions, and methods described herein are useful in selecting appropriate treatment modalities for a subject having, suspected of having, or at risk of developing an inflammatory skin disease.

Methods of detecting, predicting severity of, and/or predicting treatment response to respiratory virus infection in a sample obtained from a subject. The methods include assaying a methylation state of a marker in a sample obtained from a subject and identifying the subject as having respiratory virus infection, a likelihood of severe outcomes of respiratory infection, and/or a likelihood of treatment response depending on the methylation state of the marker. The markers can include bases (DMP) in differentially methylated regions (DMR) as provided herein.

The present invention relates to a digital multiplex method for detecting and/or quantifying multiple target biomolecules in a sample, said biomolecules being selected from DNA, RNA, and proteins. The present invention further relates to different applications of the digital multiplex method and to a kit.

This invention relates to methods and compositions for assessing an amount of donor-specific fraction of cell-free DNA, such as from a subject. The methods and compositions provided herein can be used to determine risk of a condition, such as transplant organ injury (e.g., cellular injury), cellular rejection grade, antibody-mediated rejection, cardiac allograft vasculopathy, and/or cardiac arrest in a transplant subject.