Abstract: Methods and compositions for analysis and treatment of repeat expansion disorders are described. Labeled amplicons of a variable repeat region of a gene may be generated, the generating using primers that introduce at least one molecular label to respective nucleic acid molecules of origin of a biological sample. The labeled amplicons may be sequenced to generate sequencing reads having the at least one molecular label incorporated. A sequence repeat length distribution of the variable repeat region in at least a portion of the biological sample may be generated based on the sequencing reads.

Abstract: Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.

Abstract: As described herein, the present invention features compositions and methods for evaluating the propensity of a subject for having or developing an autoimmune and/or inflammatory disease or disorder and for treating autoimmune and inflammatory diseases or disorders.

Abstract: The present disclosure describes compounds of the formula: (I), (II), (III), (IV), (V). The compounds described herein may be cyclooxygenase (COX) (e.g., cyclooxygenase 2 (COX2)) inhibitors. The compounds may be radiolabeled. The compounds (e.g., radiolabeled compounds) may be useful (e.g., as positron emission tomography (PET) imaging agents) for diagnosing a disease. The compounds may also be useful for treating or preventing a disease. The present disclosure also describes pharmaceutical compositions and kits including the compounds; and methods of using the compounds.

Abstract: The present invention provides for methods of identifying cell types and cell subtypes from a biological sample or population of target cells. The methods further provide for determining cell type or cell subtype signatures. The method further provides for bipolar cell subtypes and markers and cell signatures thereof.

Abstract: Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.

Abstract: The present invention provides for methods of identifying cell types and cell subtypes from a biological sample or population of target cells. The methods further provide for determining cell type or cell subtype signatures. The method further provides for bipolar cell subtypes and markers and cell signatures thereof.

Abstract: Disclosed herein are methods for predicting the immunocompatibility of two subjects that include determining the presence or absence of one or more deletion variants in the DNA sequence of a gene, where the deletion variant substantially prevents expression of the protein encoded by the gene.