10 results about "Genome-wide association study" patented technology

A method for constructing a disease prediction model is provided. First, a genome-wide association study (GWAS) is conducted on patients with the target disease to identify relevant SNP loci. Next, two SNP loci are randomly selected as a first SNP combination, and a first machine learning model is trained for disease prediction, with its accuracy verified. Subsequently, the remaining SNP loci are sequentially added to the first combination to generate multiple second SNP combinations, and the corresponding disease prediction models are trained and validated. Among these second combinations, the one with the highest prediction accuracy is selected as the third combination. This process is repeated until all SNP loci are included, ultimately determining the optimal SNP target combination for the final training and prediction of the disease prediction model.

According to one embodiment of the present disclosure, a method for estimating a polygenic risk score (PLS) includes the steps of obtaining data related to a genome-wide association study (GWAS) of an individual for whom the polygenic risk score is to be estimated, obtaining a plurality of primary estimates of the individual's polygenic risk score from the data via a plurality of deep learning models, generating a second test set for a metalearning model using the plurality of primary estimates, and obtaining a final estimate of the polygenic risk score from the second test set via the metalearning model.

Provided are methods, systems and computer program product embodiments for analyzing multi-omic data using a tensor regression model for genome-wide association studies in the life sciences. The unique structure of tensor covariates is leveraged to find associations between the omics data and complex diseases. Within this framework, the excessive dimensionality is reduced to a manageable level, leading to efficient estimations and predictions. The method is superior to using classical regression techniques in genome-wide association studies, which are challenged by analyzing multi-dimensional and uniquely structured data from the health and life sciences, in which covariates can take on more intricate forms such as multi-dimensional arrays. Embodiments have multiple uses in genomics, proteomics, metabolomics, multi-omics data integration, drug discovery, personalized medicine and predictive modeling, demonstrating the versatility and importance of tensor regression models to understand the associations between omics data and complex diseases.

The application discloses a TWAS statistical method for horizontal pleiotropic correction in underrepresented populations, and relates to the technical field of whole genome association study, and comprises the following steps: for each gene, the effect of the expression prediction value of the gene in GWAS research on a phenotype and the horizontal pleiotropic effect of cis-SNPs on the phenotype are considered, and thus a TWAS model of underrepresented populations is constructed; based on the TWAS model of underrepresented populations, a non-zero effect is selected by introducing a smooth truncated absolute deviation penalty function, and least square estimation is combined to estimate and infer the effect and the horizontal pleiotropic effect of individual horizontal data and aggregate statistical data respectively. In the TWAS framework, cis-SNPs with horizontal pleiotropy are accurately identified, and accurate statistical inference and effect estimation of the predicted gene expression on a phenotype are realized.

The disclosure provides, in various embodiments, compositions, such as polypeptides, polynucleotides, gene editing systems, small molecules, vectors or host cells, that comprise and / or modulate expression or activity of immune regulation-associated proteins, such as cytokines. The disclosure also provides, in various embodiments, methods of treating a disease or condition (e.g., a disease or condition associated with the Genome-Wide Association Study (GWAS), the Cancer Genome Atlas (TCGA), whole genome sequencing, phenome-wide association study (PheWAS), expression quantitative trait locus (cQTL) studies, or a combination thereof) using an agent that comprises and / or modulates expression or activity of an immune regulation-associated protein, and methods of identifying said agent.

The invention provides an irritable bowel syndrome risk marker based on genomics. The risk marker comprises the following six pathogenic genes: CADM2, PHF2, PCLO, SHISA6, LRP1B and TANK. According to the invention, not only is the effect of the latest large-scale whole genome association research (GWAS) on the aspect of analyzing the genetic cause of the irritable bowel syndrome shown, but also five new genetic risk variation, potential unreported pathogenic genes and treatment targets of the irritable bowel syndrome are found; a new insight is provided for the cause of the irritable bowel syndrome, and a potential therapeutic intervention target is highlighted. The invention also provides an application based on the risk marker of the irritable bowel syndrome and a corresponding early screening kit.

Improved methods for determining full-genome associations with phenotype data represented by medical images, ECG traces, spirometry-traces, or other high-dimensional phenotype-representing physiosignals are provided. These methods include training an encoder, as pan of an autoencoder, to project input physiosignals into a phenotypically representative set of lower-dimensional latent variables. In some examples, the latent variables are augmented by clinical correlates of the input physiosignals (e.g., a. force vital capacity-determined from a spirometry trace), The latent variables and / or clinical correlates are then used to determine genetic loci that are associated with each of the latent variables. These associations can then be used to focus drug development and / or to predict polygenic scores tor ram diseases for which sufficient, data, may-not be available for a full genome-wide association study or other genomic data-to-phenotype association.

The application provides an rs10045697 related SNP marker combination for predicting the risk and susceptibility of high myopia based on equivalent spherical lenses and an application thereof, and relates to the field of biological medicine. Specifically, the application screens a key SNP marker rs10045697 and a plurality of SNP sites related to high myopia in a high myopia queue based on whole genome association study (GWAS), and a model constructed based on the SNP marker combination can realize risk stratification and susceptibility detection of high myopia, is suitable for ophthalmic screening, high-risk population identification and precise prevention and control intervention, and has important clinical transformation value.

The invention provides an rs10045697 related SNP (Single Nucleotide Polymorphism) marker combination for predicting high myopia risk and susceptibility based on an equivalent spherical mirror and application of the rs10045697 related SNP marker combination, and relates to the field of biological medicines. Specifically, a key SNP marker rs10045697 and a plurality of SNP loci related to high myopia are screened based on equivalent spherical power in a high myopia queue through genome-wide association study (GWAS), and a model constructed based on the SNP marker combination can realize risk stratification and susceptibility detection of high myopia. The method is suitable for ophthalmology screening, high-risk group identification and accurate prevention and control intervention, and has important clinical transformation value.

The invention provides application of quercetin 3, 4 '-diglucoside in preparation of a dental ulcer treatment preparation and the treatment preparation, and relates to the technical field of biological medicines. In the embodiment of the invention, based on genome-wide association study (GWAS) and Mendel randomization (MR) analysis, a series of patent medicine genes and related core targets of the oral ulcer are determined, and it is proved that quercetin-3, 4 '-diglucoside can be specifically combined with and regulate the core targets, so that accurate intervention on key pathological pathways of the oral ulcer is realized. The limitation that an existing oral ulcer treatment drug is unclear in target spot and fuzzy in action mechanism is overcome, a new natural product research and development paradigm driven by genetic evidence is provided, and a new drug candidate and solution are provided for oral ulcer treatment.