6 results about "Exome sequencing" patented technology

The application relates to the technical field of gene sequencing data processing and bioinformation analysis, in particular to a Web-based whole-exome sequencing tumor gene mutation detection visual analysis method and system. The system collects user sequencing data and a reference genome version through a Web interactive interface; a program is called to perform quality control cleaning and evaluation on the data, and a visual report is generated; sequence alignment is completed based on the reference genome, and a variation site is identified through algorithm iteration; biological annotation of the variation is combined with a database, a candidate pathogenic mutation set is screened out in multiple levels according to a strategy, the candidate set is projected to a visual interface, a site state is confirmed or removed in response to a manual checking instruction, and a final gene mutation detection report is generated. The application greatly simplifies the whole-exome sequencing data processing procedure, makes it easy for clinical doctors or researchers without bioinformation background to start, and improves the popularization rate and work efficiency of tumor gene detection work.

The application discloses a quality control method for detecting copy number variation of second-generation whole exome sequencing and application. The quality control method comprises the following steps: obtaining whole exome sequencing data of a sample to be detected, and calculating average sequencing depth of a probe region; matching the average sequencing depth of the sample to be detected with average sequencing depths of reference samples in different batches; if a matching condition is met, selecting corresponding depth reference sample sequencing data, and performing subsequent quality control on the sample to be detected; if the matching condition is not met, the sample to be detected cannot be used for copy number variation analysis; calculating STD and NEDDI of the sample to be detected, and comparing the STD and NEDDI with a quality control model; if the STD and NEDDI are located below a curve of the quality control model, the sample to be detected passes the quality control; otherwise, the sample to be detected does not pass the quality control. The application innovatively performs quality control grading in a data preprocessing stage, judges whether a sample is suitable for copy number abnormal genetic analysis, significantly improves variation detection accuracy and reliability, and provides efficient technical support for clinical practical application.

The application provides a processing method and processing system of whole exome sequencing data and a system for detecting short tandem repeat disease-related abnormal amplification. The application defines the STR-related genes that can be detected in the sample by the actual sample true coverage in the WES sequencing data, which is more accurate than the evaluation of whether the bed region of the WES probe and the bed+flanking region overlap. The processing method of whole exome sequencing data provided by the application is less affected by different algorithms, different sequencing platforms, different probes and different alignment software, and the data results obtained are more accurate.

The application provides a miscarriage risk assessment method and system of whole-exome load and serum markers, comprising: independently scoring each variation in whole-exome sequencing data to obtain a comprehensive pathogenic score; constructing a gene pathogenic load matrix; mapping the gene pathogenic load to a biological pathway to obtain a pathway comprehensive score and construct a model; solving the model by jointly optimizing the regularization strength parameters of the two-layer ridge penalty terms, outputting significant pathway features; standardizing and preprocessing serum detection data; jointly modeling the output significant pathway features and the output standardized serum data under the same logistic regression probability framework, outputting a miscarriage-related risk probability value, and performing probability stratification. The application also outputs a double-track coordination coefficient to quantify the directional consistency of genetic signals and serum signals. It is significantly superior to a single omics solution and provides a high-precision individualized risk assessment tool for recurrent miscarriage with normal karyotype.

The application discloses a gene marker combination for evaluating HLH risk and use thereof, and belongs to the technical field of gene detection. The gene marker combination is obtained by whole genome association analysis of whole exome sequencing, covers more extensive genetic information, solves the narrowness of the prior art, and provides more comprehensive analysis of the polygenic heterogeneity of HLH. Moreover, the cumulative effect of alleles is comprehensively considered, the genetic susceptibility characteristics of an individual to HLH can be more accurately reflected, and the sensitivity and specificity of gene detection can be improved.

The application discloses a reagent for detecting long fragment deletion mutation of an FHOD3 gene and application thereof, and belongs to the technical field of biological medicine. The reagent comprises nucleic acid molecules specifically recognizing long fragment deletion mutation of an intron starting region of the FHOD3 gene, in particular primers and probes for deletion mutation of the 12th-14th exon and / or deletion mutation of the 15th exon. The application first discovers and verifies the two pathogenic deletion mutations closely related to hypertrophic cardiomyopathy. In cooperation with a microdroplet digital PCR technology, the reagent has a sensitivity of 99%, a specificity of more than 95%, good repeatability, and an accuracy of 95%-99%. The new detection rate reaches 40% in a patient family with a negative result of previous whole-exome sequencing, effectively making up for the deficiency that the prior art cannot detect long fragment deletion in an intron starting region, and the reagent is suitable for gene diagnosis, family genetic screening and genetic consultation of hypertrophic cardiomyopathy.