8 results about "Genetic variants" patented technology

The invention relates to a method for detecting changes of nucleotide sequences by using an isothermal nucleic acid amplification technology, a primer set for detecting selected genetic variants and components of a reaction mixture.

The present invention relates to a vascular endothelial growth factor (VEGF) inhibitor for use in the treatment of wet macular degeneration, wherein the VEGF inhibitor is adapted to be administered intravitreally to a patient, wherein the patient has previously been treated intravitreally with the VEGF inhibitor for approximately one year, and has one or more genetic variants that are single nucleotide polymorphisms selected from rs2106124, rs1879796, rs12148845, rs12148100, rs17482885, and rs17629019.

The present application relates to a gene mutation and phenotype information association analysis method and system, belonging to the technical field of automatic medical analysis. The method comprises the following steps: S1: obtaining a high-frequency pathogenic gene mutation white list; S2: obtaining genotype data of the object to be analyzed, comparing with the gene mutation in the white list, taking the intersection, and obtaining the high-frequency pathogenic gene mutation; S3: obtaining the high-frequency pathogenic gene mutation and the phenotype information of the object to be analyzed, performing high-frequency pathogenic gene mutation association analysis, and obtaining the associated high-frequency pathogenic gene mutation set; S4: obtaining the genotype data and the phenotype information of the object to be analyzed, performing conventional association analysis, and obtaining the associated gene mutation set; S5: obtaining the associated high-frequency pathogenic gene mutation set and the associated gene mutation set, taking the union, and outputting the gene mutation list in the union, which is the candidate pathogenic gene mutation list. The method can solve the problem of false negatives in conventional analysis methods (software).

Provided herein are methods, compositions, and kits to spatially detect genetic variants in a target nucleic acid via templated-ligation and reversible terminator nucleotides.

Analysis devices, storage media, and methods relating to prediction of phenotypic traits from proteomic data and correlation of the phenotypic traits to genomic data. The proteomic data includes information regarding protein abundance for a plurality of distinct proteins for a plurality of individuals. The genomic data includes information regarding presence of a plurality of distinct genetic variants for each individual. The methods include applying a predictive model to the proteomic data to predict at least one predicted phenotypic trait that is correlated to the proteomic data for at least one individual. The applying includes correlating the protein abundance of at least two proteins to the predicted phenotypic trait for the at least one individual. The methods also include identifying, from the genomic data for the at least one individual, at least one genetic variant that is correlated to the at least one predicted phenotypic trait.

The present disclosure provides, in part, a method of identifying genetic variants in an embryo. The method comprises: (a) obtaining two or more analyte sources from the embryo; (b) analyzing the two or more analyte sources to obtain genetic information for each source; (c) comparing the genetic information for each source to one or more reference genomes using at least one variant call program, wherein the variant call program identifies variants between each source and the reference genomes; and (d) combining the variants to identify the difference presented only by the source, wherein the difference is a genetic variant in the embryo.

Disclosed herein methods and compositions for diagnosing, stratifying risk, and treating hypoxia-related brain disorders using NHIP genetic variants, DNA methylation signatures, and circulating NHIP peptide levels, as well as NHIP based peptide therapeutics for improving neurological and developmental outcomes.