28 results about "Gene panel" patented technology

The present invention relates to a method for the ex vivo molecular diagnosis of gastrointestinal stromal tumors, comprising the steps of: providing at least one isolated tissue sample comprising at least one nucleic acid and the subsequent extraction of the at least one nucleic acid. The method according to the present invention further comprises a step of quantifying the at least one previously isolated nucleic acid. Furthermore, the method according to the present invention comprises preparing at least one amplicon library of said previously isolated nucleic acid, which comprises sequences obtained from the FGFR1, NF1, SDHA, SDHB, SDHC and SDHD genes. This step is followed by the step of purifying the at least one amplicon library and the step of simultaneously sequencing the amplicons themselves. The present invention also relates to a multi-gene panel for ex vivo molecular diagnosis of gastrointestinal stromal tumors and a kit comprising such a panel.

The invention relates to the technical field of biology, and particularly discloses a gene Panel sequencing method for intrahepatic cholestasis in a gestation period, which comprises the following steps: collecting saliva, performing DNA extraction and purification on a sample, breaking the purified sample, treating the broken sample to obtain a supernatant A, performing linker connection and purification on the supernatant A to obtain a supernatant B, and sequencing the supernatant B to obtain the gene Panel of intrahepatic cholestasis in a gestation period. The invention relates to a Panel detection technology for detecting 186 cholestasis genes covering bile acid metabolism, which comprises the following steps: preparing a supernatant B, carrying out pre-PCR and purification treatment on the supernatant B to obtain a pre-PCR product, carrying out liquid phase hybridization and capture, configuring a PCR reaction system, carrying out Post-PCR reaction and purification to obtain a supernatant C, quantifying the supernatant C, screening ICP susceptible genes through mixed sample sequencing, collecting DNA (Deoxyribonucleic Acid) through a saliva sampling mode, and detecting the 186 cholestasis genes covering bile acid metabolism. Other hereditary intrahepatic cholestasis diseases can be excluded, and ICP genetics susceptibility genes are defined.

Described herein are gene panel compositions and methods of use thereof for spatial omic analysis in biological samples. The gene panels may be organized into distinct modules that target various aspects of immune response, tumor biology, and intercellular communication within the microenvironment. These methods involve spatial omic techniques, such as spatial transcriptomics, to localize gene expression across tissue sections, providing detailed insights into immune cell infiltration, immune checkpoint activation, and tumor-immune interactions. The disclosed compositions and methods are applicable for diagnostics, monitoring therapeutic responses, and guiding personalized treatment strategies. The modular design of the gene panels allows for customization based on specific research or clinical objectives.

The invention provides a noise-induced hearing loss genetic risk prediction method and system, and relates to the technical field of gene detection.The method comprises the steps that a gene Panel is constructed based on noise-induced hearing loss genome data, a sample is sequenced through the gene Panel, and a sequencing result is obtained; performing linkage imbalance pruning on a sequencing result to obtain SNPs (Single Nucleotide Polymorphisms); carrying out dimensionality reduction on the SNPs based on principal component analysis to obtain a plurality of principal component data; and calculating to obtain a polygene risk score, synchronizing the polygene risk score and the plurality of principal component data to the noise-induced hearing loss prediction model for analysis, and determining a genetic risk prediction report. The technical problem that in the prior art, due to the fact that genetic risk prediction research only pays attention to a small number of genes and the information coverage degree is low, the accuracy and applicability of the prediction result are insufficient is solved, the prediction accuracy, stability and generalization ability are improved, and therefore the technical effect of individualized noise-induced hearing loss risk assessment is achieved.

A method for assessing quality of genomic regions studied for inclusion in standardized clinical formats includes receiving data sets to be applied to a plurality of gene panels. The method also includes applying, by a processor executing instructions, standardized quality control metrics to the data sets to be applied to the plurality of gene panels; filtering, by the processor executing the instructions, each of the data sets to be applied to the plurality of gene panels to sets of variants and formatting the sets of variants in a clinical format, and outputting the sets of variants resulting from the filtering to a downstream application.

Transcript Enrichment and Quantification Utilizing Isothermally Linear-Amplified Sequencing (TEQUILA-seq) is a versatile, easy-to-implement, and highly cost-effective method utilizing isothermally linear-amplified capture oligos for targeted sequencing. TEQUILA-seq reduces the per-reaction cost of targeted capture by 2-3 orders of magnitude, as compared to a standard commercial solution. When performed on the Oxford nanopore platform for long-read RNA-seq with multiple gene panels of varying sizes, TEQUILA-seq consistently and substantially enriched transcript coverage while preserving transcript quantification. Profiling of full-length transcript isoforms of 468 actionable cancer genes across 40 breast cancer cell lines representing distinct intrinsic subtypes identified transcript isoforms enriched in specific subtypes and discovered novel transcript isoforms in extensively studied cancer genes such as TP53. Among cancer genes, tumor-suppressor genes were significantly enriched for aberrant transcript isoforms targeted for degradation via mRNA nonsense-mediated decay, revealing a common RNA-associated mechanism for gene inactivation. TEQUILA-seq can be broadly used for targeted sequencing of DNA and RNA in diverse biomedical research settings.

This disclosure provides a method for treating a cancer patient comprising administering to the patient a therapeutically effective amount of an anti-PD-1 antagonist, for example, an anti-PD-1 or anti-PD-L1 antibody, in combination with an indolamine 2,3-dioxygenase inhibitor, wherein the patient is identified as exhibiting a combined biomarker comprising (a) a high IFNγ inflammatory signature score and (b) a low tryptophan 2,3-dioxygenase 2 (TDO2) gene expression score. The high IFNγ inflammatory signature score is determined by measuring the expression of a panel of IFNγ-related inflammatory genes in a cancer sample obtained from the patient, wherein the gene panel comprises, for example, IFNγ, CXCL10, CXCL9, HLA-DRA, IDO1, and STAT1. In some respects, the gene panel also includes CCR5, CXCL11, GZMA, and PRF1.In some aspects, the genetic panel comprises CXCR6, TIGIT, PD-L1, PD-L2, LAG3, NKG7, PSMB10, CMKLR1, CD8A, IDO1, CCL5, CXCL9, HLA.DQA1, CD276, HLA.DRB1, STAT1, HLA.E and TDO2.

The invention provides a genome kit capable of identifying and diagnosing pulmonary nodules, which comprises the following steps: taking 21-gene panel as a molecular marker, detecting and calculating tumor mutation load of 21-gene in peripheral blood of a pulmonary nodule patient by adopting EV DNA in the peripheral blood, and calculating the tumor mutation load of 21-gene in the peripheral blood of the pulmonary nodule patient. A benign and malignant pulmonary nodule diagnosis scoring system is established by combining four clinical factors (gender, smoking condition, age and nodule diameter), and malignant pulmonary nodules are identified and diagnosed according to diagnosis scores. The 21-gene panel is used as the molecular marker for judging benign and malignant pulmonary nodules, and compared with CT and tissue biopsy, the 21-gene panel has more remarkable recognition and prediction value on malignant pulmonary nodules and has important guiding significance for judging the progression of tumors to invasive adenocarcinoma.

The disclosure provides a method for treating a subject afflicted with a cancer comprising administering to the subject a therapeutically effective amount of an anti-PD-1 antagonist, e.g., an anti-PD-1 or anti-PD-L1 antibody, in combination with an indoleamine 2,3-dioxygenase inhibitor, wherein the subject is identified as exhibiting a combined biomarker comprising (a) a high IFNγ inflammatory signature score and (b) a low tryptophan 2,3-dioxygenase 2 (TDO2) gene expression score. The high IFNγ inflammatory signature score is determined by measuring the expression of a panel of IFNγ related inflammatory genes in a cancer sample obtained from the subject, wherein the gene panel comprises, e.g., IFNγ, CXCL10, CXCL9, HLA-DRA, IDO1, and STAT1. In some aspects, the gene panel further comprises CCR5, CXCL11, GZMA, and PRF1. In some aspects, the gene panel comprises CXCR6, TIGIT, PD-L1, PD-L2, LAG3, NKG7, PSMB10, CMKLR1, CD8A, IDO1, CCL5, CXCL9, HLA.DQA1, CD276, HLA.DRB1, STAT1, HLA.E, and TDO2.

Provided herein are methods of treating a patient afflicted with a tumor according to the tumor's microenvironments (TME). Also provided are gene panels that can be used for identifying a human subject afflicted with a cancer suitable for treatment with a particular therapeutic agent based on the subject's TME.

Disclosed is a gene panel which can evaluate lung adenocarcinoma molecular subtype and survival risk, and an application of a reagent, which detects the gene expression level of the gene panel, in preparing a product. The product is used for determining lung adenocarcinoma molecular subtype and evaluating lung adenocarcinoma patient survival risk. The product comprises a Next-Generation Sequencing (NGS) detection reagent kit, a fluorescence quantitative PCR detection reagent kit, a gene chip and a protein microarray. Also disclosed is a method which uses the detection reagent kits to evaluate lung adenocarcinoma molecular subtype and survival risk.

The invention belongs to the technical field of clinical gene screening in obstetrics, particularly relates to a multiple PCR-NGS screening method for susceptible genes of intrahepatic cholestasis in pregnancy based on a saliva sample, and aims to solve the problems of high cost and long time consumption of existing ICP gene Panel detection. Specific primers of 40 high-frequency mutation sites of 9 ICP susceptible genes are designed, a sequencing library is constructed through two rounds of PCR amplification and magnetic bead purification, and mutation information is obtained through NGS sequencing and data analysis. The method is non-invasive and adapts to pregnancy requirements, the detection cost and time can be reduced, susceptible gene mutation can be screened out, and support is provided for genetic etiological investigation and clinical intervention of severe and refractory ICP (inductively coupled plasma).

The application relates to the field of biotechnology, in particular to a probe composition for detecting a salivary gland tumor gene panel and application thereof, and further relates to a library construction method, a sequencing method, a kit and a device for the salivary gland tumor gene panel. The probe composition can capture nucleic acid molecules of multiple genes related to salivary gland tumors, such as AKT1, APC, AR, ARID1A, ATM, AXIN1, BAP1, BARD1, BCOR, BRAF, BRCA1, BRCA2, CDH1, CDK11B, CDKN2A, CDKN2B, CREBBP, CTNNB1, CYLD, EGFR and EP300. The nucleic acid molecules in a sample to be analyzed are captured by using the probe composition, and library construction and sequencing are carried out; and the analysis result of the sequencing data is helpful to improving the diagnosis accuracy of salivary gland tumors.

The application discloses a gene panel for detecting retinal pigment degeneration and application thereof, the gene panel comprising PRPF31, TFPT, NDUFA3, OSCAR, USH2A, EYS, RPGR, RHO, RP1, ABCA4, RDH12, CRB1, CNGA1, SNRNP200, CERKL, PDE6B, PROM1, CEP290, RP2, CYP4V2, RPE65, PRPF6 and CNGB1. The gene panel comprises PRPF31 and its upstream and downstream genes, and covers high-frequency mutation genes in an RP population. Through high-density probe design on target regions of the genes, not only the detection cost is reduced, but also precise diagnosis of clinical typing of RP and comprehensive genetic evaluation of PRPF31-RP patients can be realized.

The present application relates to the technical field of gene detection, in particular to a gene panel, method, device and use for somatic cell variation detection of SLC35A2 gene. The present application provides a gene panel, which can target capture the entire SLC35A2 gene related region, including exons, introns, promoters and enhancers, and carry out somatic cell variation detection, including SNVs, small Indels and SVs. The panel is used for detection of refractory epilepsy surgical brain tissue specimens, and can genetically diagnose mild cortical dysplasia with oligodendrogliosis epilepsy (MOGHE). This kind of disease is a new subtype of focal cortical dysplasia newly included by the International League Against Epilepsy in 2022. The panel has high variation detection rate and more comprehensive variation detection types.

The invention relates to a gene combination for detecting hemangioma and vascular malformation and application thereof. 62 genes Panel closely related to hemangioma and vascular deformity are excavated, and the Panel comprises a DNA detection gene and an RNA detection gene, and can be effectively applied to identification of hemangioma and vascular deformity driving gene mutation, genetic susceptibility genes and fusion genes which possibly exist, so that pathologists are guided to clear pathological diagnosis and typing; according to the gene detection panel for the hemangioma and the vascular malformation, the target treatment selection and genetic risk evaluation and screening of a patient are guided, the blank of lack of the gene detection panel special for the hemangioma and the vascular malformation at present is filled, the detection rate and sensitivity of the hemangioma and the vascular malformation are improved, and the problems of misdiagnosis and missed diagnosis caused by easy omission of the current detection panel are effectively solved.

The present invention relates to a gene panel for predicting the responsiveness of renal cancer patients to radiotherapy. In the present invention, the responsiveness of patients to stereotactic body radiotherapy can be predicted with high accuracy by only biopsy of a small amount of tissue, thereby maximizing the efficiency of radiotherapy for patients with difficulty in surgery and at the same time, providing the advantage of preserving renal function.

The disclosure provides a method for treating a subject afflicted with a tumor comprising administering to the subject a therapeutically effective amount of an anti-PD-1 antibody or antigen-binding portion thereof or an anti-PD-L1 antibody or antigen-binding portion thereof, wherein the subject is identified as having a low stromal gene signature score. In some aspects, the low stromal gene signature score is determined by measuring the expression of a panel of stromal genes in a tumor sample obtained from the subject, wherein the stromal gene panel comprises at least four genes selected from CDH1, CDH2, MMP1, MMP2, ITGA1, ITGA2, ITGA3, ITGA5, ITGA7, ITGA11, TGFB1, and TGFB1; at least four genes selected from TGFB1, TGFBR2, ACTA2, COL4A1, TAGLN, SH3PXD2A, TWIST1, ZEB1, and ZEB2; or MMP2 and MMP9.

The invention relates to the technical field of gene detection, in particular to a gene Panel for detecting somatic variation of an SLC35A2 gene as well as a method, a device and application of the gene Panel. The invention provides a gene Panel, which can capture a whole SLC35A2 gene related region in a targeted manner, comprises an exon, an intron, a promoter and an enhancer, and performs somatic variation detection, and the detected variation comprises SNVs, small Indels and SVs. When the Panel is used for detecting intractable epilepsy surgical brain tissue specimens, mild cortical development malformation with oligodendrocyte hyperplasia epilepsy (MOGHE) can be genetically diagnosed, and the disease is a new subtype which is newest brought into focal cortical development malformation by international anti-epilepsy alliance in 2022. The Panel variation detection rate is high, and variation detection types are more comprehensive.

Described are methods of diagnosing or determining the risk of developing HYPO sepsis in a subject. Also disclosed are method diagnosis and treating or preventing HYPO sepsis in a subject. The methods comprise measuring expression of each of five to seven genes in a panel in a sample and comparing the expression of the five to seven gene with a predetermined control.

The disclosure provides methods and compositions, e.g., kits and microarray, for assessing the immune response in a murine tumor model based on the expression of a gene panel that characterizes tumor immune interactions.

This slide specimen confirmation assistance system comprises: an image acquisition means for acquiring, for a gene panel test, an image of a first stained slide specimen in which a first target region is marked by a physician; a first output means for outputting the result of estimation of the tumor cell content proportion of the first target region; an identification means for identifying a second target region on the first stained slide specimen; a second output means for outputting the result of estimation of the tumor cell content proportion of the second target region; and a first generation means for generating, according to an instruction from a user, target region change information indicating that the second target region is to be used.

The present invention discloses a gene detection composition for limb dysplasia, its application, kit and detection method, belonging to the field of biological detection technology. This detection composition can detect relevant gene mutations of ±20 bp at the boundaries of all exons and introns of 460 limb dysplasia genes at one time, covering 425 limb dysplasia diseases. By using the targeted capture gene panel next-generation sequencing technology, the detection results have the advantages of high throughput, low cost, strong accuracy, high sensitivity, and comprehensive coverage of variations, and have great clinical application value and broader market promotion prospects. In the library construction process, through the principle of targeted hybridization capture, gene mutations that are instructive for limb dysplasia can be detected more efficiently, the cost of gene detection and the difficulty of experimental operation can be reduced, the sequencing depth can be increased, the detection sensitivity can be improved, and it has incomparable accuracy for some complex structural variations and gene complex regions.

The invention provides a gene variation filtering and sorting method, device and equipment. The gene variation filtering and sorting method comprises the following steps: S1, acquiring original variation data; s2, filtering by using a multi-dimensional comprehensive condition to screen the original variation data, and outputting the filtered variation data; s3, performing priority setting and sorting on the filtered variation data in the step S2 on the basis of a sorting condition of the variation data to obtain to-be-analyzed target variation data; according to the method, through the steps of biological information analysis quality control filtering, crowd frequency and phenotype filtering, gene Panel, ACMG evidence strip filtering and sorting and the like, gene variation is systematically screened and subjected to priority sorting, so that the accuracy and efficiency of variation screening are improved, the precision and comprehensiveness of gene variation screening are remarkably improved, and the method is suitable for popularization and application. And a more reliable basis is provided for genomics research and clinical diagnosis.

The embodiment of the invention provides a gene panel, a probe, a kit and a method for detecting bony mandibular prolapse, and belongs to the technical field of gene detection. The gene panel for detecting the bony mandibular prolapse comprises a plurality of target genes. According to the scheme, the reported bony mandibular preprocess related genes and the potential core pathogenic genes screened through the network propagation algorithm are integrated at the same time, a genetic detection panel which is wider in coverage and higher in relevance is constructed, and systematic capture and high-confidence identification of the bony mandibular preprocess pathogenic genes are achieved. The panel can detect functional mutation of multiple gene loci at a time, the problem that key genetic factors are omitted in traditional single-gene detection is solved, and the detection sensitivity and specificity are improved.

The invention discloses a methylation gene combination related to liver cancer in plasma and application thereof, and the methylation gene combination related to liver cancer in plasma comprises TSPYL5 and CLEC11A; the combination further comprises any one or more genes selected from the group consisting of LRRC4 and KCNA3. The invention also provides an application of the combination as a detection target in preparation of a liver cancer auxiliary diagnosis kit. According to the auxiliary diagnosis kit for the liver cancer, the detection sensitivity of the biomarker can be improved to 5-10 copies / microliter, and the methylation conditions of the provided four liver cancer related genes TSPYL5, CLEC11A, LRRC4 and KCNA3 are potential meaningful clinical indexes for diagnosis, prognosis evaluation and curative effect monitoring of the liver cancer (especially early liver cancer).

The invention relates to the technical field of molecular diagnosis, and discloses a VTE high-risk individual screening multi-gene panel kit and application thereof.The kit comprises a nucleic acid extraction assembly, a primer set aiming at 18 VTE related gene loci, DNA polymerase, dNTPs, a buffer solution and a quality control product, the functions of blood coagulation, anticoagulation, fibrinolytic systems and vascular endothelium are covered, and the kit can be used for screening VTE high-risk individuals. VTE risk hierarchical prediction is realized in combination with a risk scoring model, the sensitivity reaches 1% mutation abundance, and the prediction accuracy exceeds 90%.

The application provides an immunohistochemical combined gene detection system for early screening of skin lymphoma, which integrates ten function modules of intelligent sample pretreatment, multi-target synchronous immunohistochemical staining, high-resolution digital pathology scanning, laser microdissection assisted micro-nucleic acid extraction, skin lymphoma specific gene panel amplification, high-throughput sequencing, multi-modal data fusion, intelligent risk assessment, dynamic follow-up early warning and standardized report generation. The system realizes accurate matching of spatial localization of immunophenotype and high-sensitivity gene variation detection on the same tissue section, and automatically outputs individualized risk score and diagnosis suggestion by fusing multi-dimensional data through artificial intelligence algorithm. Compared with the traditional method, the detection rate and interpretation consistency of early skin lymphoma are significantly improved, the whole process is automatically and standardized, and the system is suitable for clinical early screening, differential diagnosis and dynamic monitoring, and has important application prospect.