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176 results about "Mutation frequency" patented technology

Mutation frequency and mutation rates are highly correlated to each other. Mutation frequencies test are cost effective in laboratories however; these two concepts provide vital information in reference to accounting for the emergence of mutations on any given germ line.

Tumor cloning mutation detection method and device based on next-generation sequencing and memory medium

ActiveCN108733975AAvoid influenceAccurate tumor clonal mutation type detection resultsSpecial data processing applicationsMutation frequencyMutation detection
The invention discloses a tumor cloning mutation detection method and device based on next-generation sequencing and a memory medium. The method provided by the invention comprises the steps of carrying out mutation detection on a comparison file of paired tumor and normal samples through utilization of mutation detection software, computing a mutation frequency, and selecting segments with high sequencing quality as a statistics result; carrying out copy number and purity detection on the paired tumor and normal samples through utilization of purity detection software; combining small segments into big segments, and annotating the copy number in a mutation area; and computing a proportion of the mutation in a tested tumor tissue through utilization of a beta distribution model according to tumor sample purity and copy number detection results, thereby judging a tumor cloning mutation type. According to the method provide by the invention, influences of the sample purity and multiploidon the detection are avoided, the mutation type detection is relatively accurate, the subcloning mutation with clinical significance can be effectively identified, and the foundation for accurately and deeply researching a tumor cloning evolution process and searching a tumor therapy molecular mechanism is laid.
Owner:深圳裕策生物科技有限公司

Multi-site mutagenesis

ActiveUS20060051748A1Optimized cycling conditionSimple methodSugar derivativesHydrolasesMulti siteMutation frequency
The present invention provides compositions and improved methods for multi-site directed mutagenesis and DNA shuffling. The present compositions and methods provide increased mutation frequency and increased number of transformants which allow one to sequence only a few clones in order to identify the correct mutants and to obtain the desired mutant by screening large number of transformants in a short time. Moreover, the inclusion of FEN-1, PEF and optimized buffer and cycling conditions provided in the present invention should also facilitate random mutagenized library construction and the mutagenesis of large or difficult templates.
Owner:AGILENT TECH INC

Intelligent tumor medication instruction system

The invention relates to an intelligent tumor medication instruction system. The intelligent tumor medication instruction system is characterized by comprising a patient information module, a gene mutation detection module, a medication instruction database and a detection result reporting module, wherein the patient information module is used for recording the basic information of a patient; the gene mutation detection module is used for detecting the gene mutation information of the patient, such as a gene name, a mutation site, mutation conditions, mutation frequency and germline mutation and / or somatic cell mutation; the medication instruction database is used for performing medication instruction and query according to the clinical information of the patient, automatically matching and sequencing the clinical information and the medication instruction and query results, and sending an optimum medication instruction scheme suitable for the tumor patient to the detection result reporting module; a doctor can instruct the medication on the tumor patient according to the medication scheme displayed by the detection result reporting module. The intelligent tumor medication instruction system is widely applied to the diagnosis and medication instruction process of the tumor patient.
Owner:BEIJING CAPITALBIO MEDLAB CO LTD +1

A molecule adaptor and applications thereof

A molecule adaptor having characteristics of high stability, a high sample DNA connection efficiency and correction functions is designed based on illumina sequencing adaptor optimization. The molecule adaptor can detect mutation sites the mutation frequency of which is as low as 0.05%. The molecule adaptor is used for identifying real mutations in a sample sequencing library constructing process and false-positive mutations introduced by an operating process. In addition, a method of constructing a sequencing library for a sample to be detected is provided.
Owner:SUZHOU PREMED MEDICAL LAB CO LTD +1

Device for detecting somatic mutation

The invention provides a device for detecting somatic mutation. The device comprises an acquisition module, an annotation module, a screening module, a computing module, a mutation type primary judgment module and a mutation type correction module, wherein the screening module comprises a virtual comparison set, and the virtual comparison set contains 561 cases of mutation information of leukocytes. According to the device, detection data is compared with a database including the virtual comparison set through the screening module, so that embryonal system mutation sites are screened; the computing module is utilized to obtain a mean value and a standard deviation of embryonal system mutation frequency of all chromosomes through computing; then the mutation type primary judgment module and the mutation type correction module are utilized to analyze mutation frequency features of all different mutation sites to determine the type of the mutation sites; and the primarily determined mutation type is corrected through the database of the mutation sites of the known mutation type, so that the mutation sites with somatic mutation in samples are screened out. Through the device, detection accuracy of the mutation sites with somatic mutation is improved.
Owner:BEIJING NOVOGENE TECH CO LTD

Device for detecting somatic cell mutation by circulating tumor DNA (deoxyribonucleic acid) samples

The invention relates to a device for detecting somatic cell mutation by circulating tumor DNA (deoxyribonucleic acid) samples. The device comprises a data acquisition module, a mutation frequency statistics module, a comparison module, a judgment module and a detection result output module. The device for detecting the somatic cell mutation by the aid of the circulating tumor DNA samples has the advantages that system errors can be accurately differentiated from the real somatic cell mutation by the device, accordingly, the sensitivity can be improved, and false positive and false negative can be reduced.
Owner:ANNOROAD GENE TECH BEIJING +2

Biological information quality control method and device based on next-generation sequencing and storage medium

The invention provides a biological information quality control method and device based on next-generation sequencing and a storage medium. The method comprises the steps that sequencing data of a to-be-detected tissue sample and control sample which are from the same individual source is obtained, wherein the control sample is a sample other than the to-be-detected tissue sample; the sequencing data is compared with a reference genome, a locus serving as a homozygous locus in the control sample while serving as a non-homozygous locus in the to-be-detected tissue sample is detected and regarded as contamination, and the contamination degree of the to-be-detected tissue sample is obtained through detection; it is judged whether or not the contamination degree is larger than a contaminationthreshold, if yes, it is determined that contamination exists, and a contamination source is found in the sequencing data in the latest several batches; if the contamination source is found, all mutations of the contamination source are removed from mutation detection results of the sequencing data of the to-be-detected tissue sample; if the contamination source is not found, mutations having themutation frequency less than the contamination degree and belonging to a known population high-frequency reproductive mutation database are removed. The biological information quality control method based on next-generation sequencing can judge the quality state of the sample, and remove false positive mutations caused by the quality problem from the detection results.
Owner:深圳裕策生物科技有限公司

Preparation method of tumor sample sequencing reference

The invention provides a preparation method of a tumor sample sequencing reference, and belongs to the technical field of high-throughput sequencing. The method comprises the following steps: performing monoclonal culture on a tumor cell line to obtain a monoclonal cell line and extracting a whole genome; determining an allele frequency; determining a dilution multiple according to an allele mutation frequency and a target allele mutation frequency; diluting the monoclonal cell line with negative cells in multiple proportion to obtain mixed cells; extracting a whole genome of the mixed cells,and determining an allele mutation frequency; and according to the comparison between the allele mutation frequency and the target allele mutation frequency of the mixed cells, refining the multiple of multiple-proportion dilution, and diluting the monoclonal cell line with negative cells to obtain the reference. According to the method disclosed by the invention, the gene background of a cell line is determined by combination of cell strain monoclone and high-throughput sequencing; and a multiple-proportion dilution method with multi-step gradual refinement is combined with a flow cytometry to accurately count cells so as to ensure high repeatability of reference preparation.
Owner:安徽鼎晶生物科技有限公司 +1

Novel deafness related gene mutation detection system and kit

InactiveCN104419757AImprove mutation detection rateRich site selection rangeMicrobiological testing/measurementMutation frequencyMutation detection
The invention discloses a novel deafness related gene mutation detection system, for detecting whether deafness gene mutation sites have mutation or not by using multiple PCR primers and a detection probe. The deafness gene mutation sites comprise a newly found CEACAM16 gene (NM_001039213.2)c.418A>C mutation site. The 32 sites selected by the detection kit are screened according to the latest human genetic deafness related gene mutation information and firsthand information accumulated by the inventor in clinical detection, and the selected sites are sites with relatively high mutation frequency in people of China and other countries and sites which are newly found in clinical detection by the inventor. Compared with deafness related gene mutation detection products available in the market, the kit covers relatively more detection sites so that the mutation detection rate is increased.
Owner:XIANGYA HOSPITAL CENT SOUTH UNIV +1

Trigonometric function speed planning method used for spline interpolation

The present invention relates to a trigonometric function speed planning method applied to spline interpolation and divided into the pre-interpolation and the real-time spline interpolation. The pre-interpolation is characterized by carrying out the rapid pre-interpolation on a to-be-processed curve, collecting the acceleration / deceleration starting points and the information of the speed maximum / minimum value points on the processed curve, then calculating a sped equation of each acceleration / deceleration segment, and saving in an acceleration / deceleration array. A real-time spline interpolation stage is characterized by firstly calculating the real-time feed speed of a cutter according to the acceleration / deceleration beginning and end parameters and the speed equations in the acceleration / deceleration array, then adopting a two-order Taylor expansion to calculate the next real-time interpolation parameter real-timelyto carry out the real-time spline interpolation. The method of the present invention is simple to control, can guarantee the processing accuracy, also can realize the continuous change of the speed and the acceleration during a high speed processing process of a numerical control machine tool, and enables the mutation frequency of the jerk to be reduced, thereby relieving the overshoot generated by the high speed processing, and realizing the flexible acceleration / deceleration control of a servo shaft.
Owner:中国科学院沈阳计算技术研究所有限公司

Tobacco NaN3 mutagenesis idioplasm innovation and breed selecting and cultivating technique

The present invention discloses a technique for making tobacco NaN3 mutation germplasm innovation and selecting-breeding variety. Said technique includes the following steps: (1), mutagenic material selection, selecting air-dried seed of tobacco cultivated variety with good comprehensiveness and strong adaptability; (2), preparing NaN3 solution; (3), seed treatment, using NaN3 solution whose concentration is 4mmol / L to treat seed for 6h at 25deg.C; (4), planting and management of M1; (5), planting and selection of M2; and (6), M3 and next-treatment. Said method can greatly raise mutation frequency, and its beeding effect is high.
Owner:GUIZHOU TOBACCO SCI INST
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