This document provides methods and materials related to genetic variations of developmental disorders.

For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

This document provides methods and materials related to genetic variations of developmental disorders.

For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

Compositions and methods for the diagnosis and treatment of lymphatic anomaly are disclosed.

Compositions and methods for the diagnosis and treatment of lymphatic anomaly are disclosed.

The present disclosure relates to a composition for treating or diagnosing osteoarthritis targeting activin A receptor type 2B (ACVR2B). More specifically, the present disclosure provides ACVR2B as a biomarker for diagnosing osteoarthritis because it was found that expression and activity of ACVR2B were increased at an early stage of osteoarthritis, expression of Mmp3, Mmp13, and Cox2 that induce destruction of cartilage was increased thereby, and expression of the genes was suppressed by inhibition of ACVR2B expression. In addition, since it was found that osteoarthritis was alleviated by suppressing the expression of ACVR2B, the present disclosure provides an ACVR2B expression or activity inhibitor as a therapeutic agent for osteoarthritis.

The invention provides a method of establishing a chicken methylation clock comprising: (a) determining the methylation ratio and the read coverage of the genomic CpG sites of an age-correlated training sample of a specific chicken tissue; (b) defining a set of CpG sites having reliable methylation ratios in all training samples of step (a) using a cutoff value; and (c) performing a penalized regression using the methylation ratios of step (b) as input and the age correlated to the training sample as dependent variable, by applying a penalized regression model; thereby obtaining a set of CpG sites with corresponding weighting factors and intercept of the linear model equation as parameters defining the chicken methylation clock.

The invention provides a method of establishing a chicken methylation clock comprising: (a) determining the methylation ratio and the read coverage of the genomic CpG sites of an age-correlated training sample of a specific chicken tissue; (b) defining a set of CpG sites having reliable methylation ratios in all training samples of step (a) using a cutoff value; and (c) performing a penalized regression using the methylation ratios of step (b) as input and the age correlated to the training sample as dependent variable, by applying a penalized regression model; thereby obtaining a set of CpG sites with corresponding weighting factors and intercept of the linear model equation as parameters defining the chicken methylation clock.

Methods and arrays for identifying the cell or tissue origin of DNA are provided. Accordingly there is provided a method of identifying DNA having a methylation pattern distinctive of a cell or tissue type or state comprising: labeling an epigenetic modification of interest in a DNA sample with a label; contacting said sample on an array comprising a plurality of probes for said DNA under conditions which allow specific hybridization between said plurality of probes and said DNA; and detecting said hybridization, wherein an amount of said label is indicative of the cell or tissue type or state, wherein the method is effected in the absence of amplification of said DNA.

Described is an assay termed Programmable Enzyme-Assisted Selective Exponential Amplification (PASEA) that concurrently amplifies both wild type and mutant alleles while selectively cleaving the former. With time, the rare mutant alleles dominate, and are readily detectable by direct detection, Sanger sequencing, and other readily available methods. Also described are point-of-care assays and microfluidic devices for performing PASEA.

Methods for selecting and treating patients with active Systemic Lupus Erythematosus (SLE) that are predicted to have an increased likelihood of having a positive response to a treatment with a safe and effective amount of an anti-IL-12/IL-23p40 antibody or an anti-IL-23 antibody, e.g., informs on what patients to treat with the anti-IL-12/IL-23p40 antibody ustekinumab.