34 results about "Genetic screen" patented technology

A method for screening newborns using electrospray tandem mass spectrometry. The method improves the current protocols that use tandem mass spectrometry by assuring accurate and consistent results at the clinical level through enhanced quality controls and quality assurance protocols as applied to the scan profiling and sample preparation of blood spots from newborns. Specific additives are used in precise concentrations of internal standards, employing detailed controls adapted to distinguish twenty metabolites, which are scanned and vigorously compared to known spectra results. Revealing peaks, metabolite concentration, and scan intensities in the quality assurance steps are then compared to a range of thresholds to determine whether or not the sample is contaminated, drug-ridden, diagnosable, or unacceptable. All spectra results and quality assurance flags are organized in spreadsheet form and exported to a database where values are compiled and stored for daily output results and trend analysis. The method provides for high-throughput and quality results, having a consistent predictability for genetically testing newborns efficiently and accurately.

The present invention provides methods and kits useful for genetic testing or screening of fetuses using nucleic acid samples isolated from cervical mucus samples of fetus hosts.

The invention relates to the field of plant height genes, and concretely relates to a gene for regulating the plant height of Gossypium hirsutum, and an application thereof. The base sequence of the CDS of the gene for regulating the plant height of Gossypium hirsutum is represented by SEQ ID NO.1, and a specific base sequence of the gene is represented by SEQ ID NO.2. A large number of SNPs covering the whole genome of Gossypium spp. are developed based on an SLAF-seq reduced representation sequencing technology by utilizing 355 natural populations of Gossypium hirsutum, genetic genes of theplant height are parsed by adopting a GWAS technology through the 3-year and 2-site phenotypic identification of plant height traits, and the genetic screens are screened to obtain the gene for regulating the plant height of Gossypium hirsutum. A result of verification of the functions of the gene by using a virus-induced gene silencing technology shows that the plant height can be controlled by regulating the expression of the gene, so the gene lays a foundation for developing the molecular breeding of the Gossypium hirsutum.

A method for classifying patients at risk for cardiovascular disease, other chronic inflammatory diseases, cardiovascular and / or non-cardiovascular morbidity and mortality based on a risk assessment for lymphocyte activation gene 3 (LAG3) protein deficiency, and for mediating the risk using recombinant lymphocyte activation gene-3 or LAG3 mimetic as a companion therapeutic alone or in combination with a statin and / or an anti-hyperlipidemic drug. The risk assessment is two-prong, beginning with a qualitative determination whether a subject has or is predisposed to abnormal expression of inflammasomes, heightened risk for inflammation and / or to dysfunctional HDL, followed by a quantitative assay or genetic screen for a polymorphism that occurs in the coding sequence of the LAG3 gene. Given positive indication, recombinant LAG3 and / or LAG3 mimetic is used alone or in combination with the therapeutic use of a cholesterol mediating drug for treatment.

The present invention relates to biomarker combinations, kits for detecting them, and their use in microsatellite instability (MSI) detection and cancer, preferably colorectal cancer (e.g., bowel cancer), gastric cancer or endometrial cancer, prognostic assessment, treatment regimen selection or genetic screening in plasma samples. A method for detecting plasma MSI is provided for the first time,which enables a microsatellite (MS) state of a sample to be judged with high accuracy and sensitivity.

The invention discloses a crRNA combination for multiple detection of hereditary hearing loss, a kit and a method thereof. The crRNA combination targets five SNP sites of deafness genes GJB2 and SLC26A4 at the same time, and comprises nucleotide sequences as shown in SEQ ID No.2, SEQ ID No.2, SEQ ID No.2, SEQ ID No.2, SEQ ID No.6, SEQ ID No.8 and SEQ ID No.10. According to the multiple detection kit for hereditary hearing loss, a Cas12a detection reaction system is arranged in a micropore of a pore plate, multiple RPA amplification is performed in a hollow honeycomb chip, and the hollow honeycomb chip and the bottom of the micropore are physically isolated by using a hollow gasket, so that two reactions of multiple RPA amplification and Cas12a detection are firstly isolated and then fused; one-step and multiple detection is realized, and aerosol pollution possibly caused by uncovering detection is also avoided. The method also realizes high-throughput detection, at most 96 samples are detected in one reaction, 5 SNP loci are distinguished at the same time, and the method is suitable for large-scale genetic screening.

The invention relates to genetic screens for susceptibility to Alzheimer's disease. In particular, the invention provides genetic screens based on genotyping of the p21E2c31 polymorphism and / or the p21E3+20 C / T polymorphism in the p21cip 1 gene.

The invention provides compositions and methods for performing mammalian cell genetics, e.g., genetic screens, using near-haploid cells. The invention further provides genes and gene products isolated using the inventive methods and methods of use thereof.

Disclosed is a method of predicting clinical tumor outcome by providing gene expression from a tumor sample. The method utilizes a novel genetic screen to identify genes that contribute to chemotherapeutic responsiveness, using formalin fixed paraffin embedded clinical samples of epithelial cancer, specifically serous ovarian cancer. The method is useful in predicting tumor responsiveness to chemotherapeutics, including alkylating agents, cisplatin, antimetabolites, plant alkaloids, and antitumor antibiotics. A microarray screen showed formalin fixed paraffin embedded samples can identify genes related to chemotherapeutic response with 86% efficiency.

Chikungunya virus (CHIKV) has caused recent outbreaks associated with severe morbidity. Currently no vaccine or treatment exists to protect humans from CHIKV infection. Treatment is therefore purely symptomatic and is based on non-steroidal anti-inflammatory drugs. Accordingly, there is a high medical need exists to have new methods of screening of compounds which could inhibit chikungunya virus. Further to a CRISPR-Cas9 genetic screen the inventors now identify the four and a half LIM domains protein 1 (FHL1) has an essential host factor for CHIKV infection. In particular, they show that primary myoblast and fibroblast from FHL1 deficient patient are resistant to CHIKV infection. They also demonstrate that depletion of FHL1 prevents CHIKV replication. Finally, they show that CHIKV non-structural protein 3 interacts specifically with FHL1A through its hypervariable domain. Thus compounds that are capable of inhibiting the interaction between the non-structural protein 3 and FHL1 would be suitable for inhibiting the replication capacity of the virus. Determining the expression level of FHL1 and / or identifying some genetic variant would also be suitable for determining whether some subjects are predisposed to CHIKV infection.

This invention relates to methods and compounds for the improvement of turkey meat and turkey populations, but not limited to, a genetic screen to select for turkeys that produce a better quality of meat characterized by a higher postmortem pH and better water holding capacity.

Successful CNS drug discovery requires a scalable, highly physiological neuronal model. Using directed differentiation of mouse embryonic stem (mES) cells, including mES cells isolated from a mouse model of Alzheimer's disease (AD), a highly homogeneous primary neuronal model amenable to phenotypic assays for production and synaptotoxicity of amyloid β-peptide was developed. This model furnishes a highly physiological and AD-relevant platform suitable for high throughput small molecule and functional genetic screens, providing specific small molecule compounds identified by such screens.

Inappropriate activation of innate immune responses in nematode intestinal epithelial cells underlies the pathophysiology of some inflammatory disorders. Immunostimulatory xenobiotics are known to protect nematodes from bacterial infection (e.g., Pseudomonas aeruginosa). Conversely, these same xenobiotics are toxic to uninfected nematodes. These xenobiotics were subjected to a forward genetic screen in uninfected nematodes to identify nematode mutants that were resistant to the deleterious effects of these xenobiotics. These resistant nematode strains contained hypomorphic mutations in each of the known components of the p38 MAP kinase cassette (tir-1, nsy-1, sek-1 and pmk-1), demonstrating that hyperstimulation of p38 MAPK innate immune responses may be responsible for the induced toxicity. A second genetic screen using dominant activators of the p38 MAPK pathway identified a single allele that had a gain-of-function (gf) mutation in nsy-1, the MAP kinase kinase kinase that acts upstream of p38 MAPK pmk-1.