35 results about "Germline mutation" patented technology

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human depression predisposing gene, specifically the apoptotic protease activating factor 1 (APAF1) gene, some mutant alleles of which cause susceptibility to depression. More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression. The invention also relates to the prophylaxis and / or therapy of depression associated with a mutation in the APAF1 gene. The invention further relates to the screening of drugs for depression therapy. Finally, the invention relates to the screening of the APAF1 gene for mutations / alterations, which are useful for diagnosing the predisposition to depression.

The present invention relates to methods and kits for determining a predisposition for developing cancer, e.g., prostate and / or breast cancer, due to a germline mutation of a NBS1 gene. The present invention also relates to surveillance protocols for developing cancer, e.g., prostate and / or breast cancer, due to germline mutation of a NBS1 gene.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human obesity and diabetes predisposing gene, specifically the TBC1D1 gene, some mutant alleles of which cause susceptibility to obesity and / or diabetes. More specifically, the invention relates to germline mutations in the TBC1D1 gene and their use in the diagnosis of predisposition to obesity and diabetes. Finally, the invention relates to the screening of the TBC1D1 gene for mutations / alterations, which are useful for diagnosing the predisposition to obesity.

The present invention relates generally to the field of human genetics, and more specifically to the detection of a specific type of germline mutations in the BRCA1 gene, which will predispose to breast and ovarian cancer. In addition, the invention relates to the molecular genetic mechanism that may have mediated the genesis of these mutations, in particular the role of Alu repetitive DNA elements present in the intronic regions of BRCA1. The invention further relates to somatic mutations of this type in the BRCA1 gene in human breast and ovarian cancer, and their use in the diagnosis and prognosis of human breast and ovarian cancer. The invention more particularly relates to the screening of this type of BRCA1 mutations in human genomic DNA, which are useful for the diagnosis of inherited predisposition to breast and ovarian cancer.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to germline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and / or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human depression predisposing gene, specifically the apoptotic protease activating factor 1 (APAF1) gene, some mutant alleles of which cause susceptibility to depression. More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression. The invention also relates to the prophylaxis and / or therapy of depression associated with a mutation in the APAF1 gene. The invention further relates to the screening of drugs for depression therapy. Finally, the invention relates to the screening of the APAF1 gene for mutations / alterations, which are useful for diagnosing the predisposition to depression.

The invention relates to a combined detection method for lymphangioleiomyomatosis and its application, and belongs to the technical field of gene detection. The method includes the following steps: liquid phase capture targeted sequencing: Panel design for the whole-exon coding regions of TSC1 and TSC2 genes highly related to LAM and mutant genes closely related to solid tumors, construction of gDNA library, and after hybridization capture, On-machine sequencing; sorting: analyze the above sequencing data by bioinformatics processing, if the TSC1 and TSC2 genes are detected negative, the chromosome chip analysis method is used for supplementary detection; if the single hit site is detected, the multiple ligation probe is used Amplification is used for supplementary testing; if loci with unclear somatic mutation and germline mutation origin are detected, Sanger test is used for supplementary testing. This method improves the detection rate of positive variants in LAM patients.

The present invention provides the use of TMEM236 gene in preparing a marker for diagnosing locally advanced rectal cancer neoadjuvant radiotherapy primary resistance. The TMEM236 gene mutation site is chr10:17796115. If it is detected that the TMEM236 gene is at the site The point mutation of chr10:17796115, TMEM236:NM_001098844:exon4:c.G667A, shows that the patient is resistant to radiotherapy. The present invention also provides the use of the kit for detecting TMEM236 gene mutation in the preparation of a neoadjuvant radiotherapy resistance diagnostic composition for diagnosing locally advanced rectal cancer. The germline mutation mutant gene TMEM236 screened by the invention can be used for predicting the primary resistance of patients with locally advanced rectal cancer to neoadjuvant radiotherapy.

The invention provides a method and device for detecting TMB. The method comprises: using the sequencing data of paired white blood cells to remove the germline mutation sites in the sequencing data of the sample to be tested to obtain a set of candidate somatic mutation sites; filtering false positive somatic mutation sites in the set of candidate somatic mutation sites to obtain The set of somatic mutation sites to be detected, the false positive somatic mutation sites include at least one of the following: mutation sites caused by oxidative damage, mutation sites caused by background noise; load mutations that concentrate the somatic mutation sites to be detected The number is divided by all the lengths of the sequencing data in the exon region to obtain the TMB. The accuracy and stability of TMB are improved by making full use of paired leukocytes, background noise mutation frequency distribution database, and oxidative damage to remove false positive somatic mutations.

The invention discloses a MED12 gene mutation detection kit and an application thereof. The kit of the present invention includes a probe set for detecting MED12 gene mutation, and the probe set is composed of probe 1-probe 48. The kit of the present invention can not only be used to detect MED12 somatic mutation and germline mutation at the level of tumor genome, but also can be used for auxiliary diagnosis, monitoring of minimal residual disease and evaluation of prognosis in patients with hematological tumors, especially acute myeloid leukemia patients. , and the detection method of the kit of the present invention is simple, sensitive and accurate, and will play an important role in the field of medical detection.

The invention relates to a method for distinguishing gene mutation types an individual tumor sample based on second-generation sequencing. A tumor tissue sample and a normal tissue sample are used forlibrary construction and NGS sequencing respectively, strand bias and different types of base frequencies of mutation sites stored in an intermediate file BAM for biological information analysis of the tumor tissue sample are analyzed, the quality of base comparison and the frequency of noise are used as the training characteristics of machine learning, meanwhile, type information of corresponding mutation sites of the normal tissue sample is paired to serve as a prediction mutation type, a classification prediction model is constructed to distinguish somatic mutation from germline mutation,the model is used to distinguish somatic mutation from germline mutation, the detection efficiency is high, the specificity is high, and after the model is established, the individual tumor sample canbe used for NGS sequencing and mutation detection, the detection cost of a normal or cancer sample can be well saved, and meanwhile, the problem that normal tissues of tumor patients with specific types are difficult to obtain can be solved.

The invention provides a series of steps that prepare nucleic acids (RNA and / or DNA) isolated from extracellular vesicles for sequencing. This enables a wide diversity of RNAs and / or DNAs, to be efficiently detected. These can then be used to identify various attributes such as gene expression, alternative splicing, and the detection of both somatic and germline mutations including single nucleotide variants (SNV) and structural variations (insertions / deletions, fusions, inversions).

The present invention relates to methods and kits for determining a predisposition for developing cancer, e.g., prostate and / or breast cancer, due to a germline mutation of a NBS1 gene. The present invention also relates to surveillance protocols for developing cancer, e.g., prostate and / or breast cancer, due to germline mutation of a NBS1 gene.