34 results about "Germline mutation" patented technology

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 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 present invention discloses a MED12 gene mutation detecting kit and an application thereof. The kit comprises probe sets for detecting MED12 gene mutations and the probe sets consist of a probe 1to a probe 48. The kit can be used for detecting MED12 somatic mutations and germline mutations at a tumor genome level, can also be used for assistant diagnosis and minimal residual disease monitoring and prognosis evaluation, etc. of patients with hematological tumors, especially patients with acute myeloid leukemia. Besides, the kit is simple, sensitive and accurate in detection method and plays an important role in the field of medical detection

The invention relates to an identification method of the high stoichiometric ratio non-germline mutation in the eucaryotic cell and provides an semi-quantitative identification method of the protein synthesis error caused by the single amino acid mutation of the non-germline mutation (NGM), wherein the method is based on the proteomics technology and genome DNA sequencing of the mass spectrometry. The method is particularly as follows: the large-scale proteome analysis, the unrestricted sequence alignment and the identification and gene sequencing of the high resolution second-order mass spectrum and third-order mass spectrum of the synthetic peptide segment are integrated to perform systematic synthesis to the NGM and identify that the four peptide segments of four proteins contain the NGMs. By adopting the method for estimation, the NGM occurrence in the peptide segment is about 0.05%, which is more than 0.3% on the protein level. According to the peptide mass spectrum count ratio of mutant peptide segments to normal peptide segments, the stoichiometric ratio of the NGM is 0.05 to 0.71. By adopting the identification method, the NGM is proved to have high occurrence and stoichiometric ratio while the NGM is predicted to be used as a possible mechanism to join the basic biological and physiological processes.

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 detect a human sporadic DCM predisposing gene, specifically the dystrophin gene, some mutant alleles of which cause susceptibility to sporadic DCM. More specifically, the invention relates to germline mutations in the dystrophin gene and their use in the diagnosis of predisposition to sporadic DCM. The invention also relates to the prophylaxis and/or therapy of sporadic DCM associated with a mutation in the dystrophin gene. The invention further relates to the screening of drugs for sporadic DCM therapy. Finally, the invention relates to the screening of the dystrophin gene for mutations/alterations, which are useful for diagnosing the predisposition to sporadic DCM.

The invention relates to a method for distinguishing a somatic mutation and a germline mutation. The method comprises the following steps of obtaining at least one mutation site from a subject sample; obtaining a wild type support fragment and a mutant type support fragment, wherein the wild type support fragment is a cfDNA fragment containing a wild type base sequence, the mutant type support fragment is a cfDNA fragment containing a mutant type base sequence, the wild type base sequence is the same as a nucleotide sequence of a human reference genome at a corresponding position of a mutation site, and the mutant type base sequence is different; obtaining the number of the wild type support fragments with at least one length, obtaining the number of the corresponding mutant type support fragments with the same length, and calculating the difference value between the ratio of the wild type support fragments with the same length to the total number of the corresponding support fragments and the the ratio of the mutant type support fragments with the same length to the total number of the corresponding support fragments ; and taking the difference value as a distinguishing index. Method and device for identifying ctDNA from cfDNA are provided. The method is used for tumor family management and TMB detection.

The present invention discloses a kit for simultaneously detecting mutations of genes NBPF10, TSFM, PRB2 and DIAPH1, wherein the kit comprises a plurality of multi-gene capture probes, can be used fordetecting the somatic mutations and the germline mutations at the tumor genome level, can be used for the assisted diagnosis of patients with hematological tumors (especially acute lymphoblastic leukemia patients), the monitoring of minimal residual diseases, the evaluation of prognosis, and the like, and can provide important effect in the field of medical detection, wherein the detection methodis simple and sensitive.

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.

A method of providing a diagnosis for a subject having Cowden-like syndrome or PTEN germline mutations is described. The method includes the steps of: (a) obtaining a biological sample from a subject; (b) conducting a germline PTEN mutation and deletion analysis of genomic DNA from the biological sample; (c) determining the level of copy number variation in the genomic DNA; (d) comparing the level of copy number variation in the genomic DNA to a control value for copy number variation; and (e) diagnosing the subject as having an increased risk of developing a neurodevelopmental disorder if the copy number variation level is higher than the control value.

The invention discloses a thalassemia mutant gene detection primer composition. The thalassemia mutant gene detection primer composition comprises 131 pairs of first primers; each pair of first primers comprises a forward primer and a reverse primer, and each of the forward primer and the reverse primer comprises an amplification primer pair and other sequences connected with the 5' end of the amplification primer pair; the specific sequence of each pair of forward primer and reverse primer is selected from the sequences as shown in SEQ ID NO.1 to 262. According to the invention, three germline mutation related genes, namely HBA1/2 and HBB, which are important to thalassemia, are selected, not only can common SNV and short indel be detected, but also complex CNV mutation can be detected, and through peripheral blood gDNA detection, on one hand, genetic diagnosis of alpha and/or beta thalassemia can be carried out on suspected thalassemia patients, and on the other hand, genetic evaluation can be carried out on high-risk couples with thalassemia, and prenatal genetic diagnosis can be carried out on fetuses.

A diagnostic strategy for detection of inherited diseases caused by germline mutations is based on somatic cell hybridization. Each allele of a human gene involved in the inherited disease is isolated in a somatic cell hybrid. The products of the isolated human allele are then observed in the absence of the other allele of the human.

A genomic data analyzer maybe configured to detect and characterize, with a variant analysis module, biallelic genomic alterations for at least one gene in next generation sequencing variant calling information for patient tumor samples characterized by different purity ratios of somatic genomic material. The variant analysis module may compare the observed variant fraction distributions of putative heterozygous germline mutations to the theoretical distributions corresponding to different chromosomal aberration events to detect a combination of genomic alteration events possibly causing the biallelic loss of function of the gene. The variant analysis module maybe used in cost effective, fully automated next-generation-sequencing oncogenomics testing to identify biallelic loss of function on tumor suppressor genes to facilitate the biological understanding and choice of a personalized oncology treatment targeting the analyzed patient tumor solely from next generation sequencing data variant information, without requiring complementary germline analysis or biological assays. The proposed genomic data analyzed may for instance help determine whether certain PARP inhibitors such as Olaparib are a recommended chemotherapy treatment to target ovarian or breast cancers in accordance with the BRCA1 and/or BRCA2 biallelic loss of function analysis.