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.

The present invention is directed to an isolated synthetic tripeptide of formula H-D-Phe-N-Methyl-L-Val-L-Ala-OMe (SEQ ID NO:1), or a derivative thereof, and to the corresponding lipotripeptides, which are specific to Mycobacterium avium subsp. paratuberculosis (Map)S-type strain, as well as derivatives and conjugates thereof. The invention also concerns the use of these antigens in different methods and tests for detecting Map infection, especially by detecting humoral response and cell mediated response of infected animals. The invention is also directed to a genetic signature of Map and a mass spectrometry and NMR spectroscopy signature of Map presence or infection.

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

The invention relates to methods of detecting mutations associated with the Ras homologue gene family member (RHOA) gene, and diagnosing conditions associated with these mutations, using Competitive allele-specific TaqMan polymerase chain reaction (cast-PCR). The invention also extends to the products used to detect mutations, and their use in diagnosis.

The present invention provides a method for obtaining tumour nucleic acid for sequencing, comprising providing a medium containing tumour cells shed from a solid tumour sample into the medium ex vivo and/or released during mechanical disruption of a solid tumour sample and extracting nucleic acid from the shed and/or released tumour cells tumour cells.

Provided herein are methods and kits for detecting the presence of DNA and/or RNA mutations associated with cancer (e.g., lung cancer). The methods and kits employ microcarriers, each with a probe specific for a DNA or RNA mutation and an identifier unique to the probe sequence. Upon isolation and amplification of nucleic acids from a sample, hybridization of amplified DNA with a probe, specific for a DNA or RNA mutation, that is coupled to a microcarrier indicates the presence of the mutation in the sample. Since each microcarrier can be identified through detection of the identifier, multiplex screening assays are provided. Representative genes that can be screened for mutations include, e.g., KRAS, NRAS, PIK3CA, BRAF, EGFR, AKT1, MEK1, and HER2 for DNA mutations and/or ALK, ROS, RET, NTRK1, and cMET for RNA mutations.

Provided are a method and system for screening neoantigen and uses of neoantigens. Specifically, provided are a method and system for screening neoantigens derived from a gene of which expression is essential for survival of a cancer cell and/or a is homogeneously expressed in all cells in cancer tissue as a diagnostic and/or therapeutic target, and uses of neoantigens.

Methods for generating a composite biomarker that identifies a predicted level of responsiveness of a subject to a particular type of an immunotherapy treatment is provided. The method can include generating genomic metrics that represent one or more characteristics corresponding to one or more DNA sequences. The method can also include generating transcriptomic metrics represent one or more characteristics corresponding to a set of peptides that are translated from a corresponding RNA sequence of the one or more RNA sequences. The method can also include generating a composite biomarker score derived from the set of genomic metrics and the set of transcriptomic metrics. The method can also include determining, based on the composite biomarker score, a predicted level of responsiveness of the subject to a particular type of an immunotherapy treatment.

The present disclosure relates to a structure capable of simultaneously purifying and detecting a nucleic acid by directly applying a sample, and more particularly, to a structure capable of performing sample preparation, loop-mediated isothermal amplification, detection and analysis steps on a single chip by applying lab-on-paper technology, and capable of finally determining whether the disease or bacterial is infected by moving the sample in a lateral flow method and immediately being connected to genetic big data related to disease and bacterial infection.

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.