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67 results about "Insertion deletion" patented technology

Insertion and deletion mutations can be as small as one nucleotide, to thousands of nucleotides long. These long insertion or deletion mutations normally occur when one part of a chromosome crosses over and changes genetic information with a different chromosome.

Method for detection of insertion deletion mutation based on second generation sequencing, device and storage medium

The present application discloses a method for detection of insertion deletion mutation based on second generation sequencing, a device and a storage medium. The method comprises the following steps:comparing a sample to be tested with a file of a reference genome to extract a set of candidate mutation sites with mutation allele frequency being greater than or equal to a threshold; filtering to remove sites in a short tandem repeat region; making detail statistics of comparison information of the mutation sites and comparison information surrounding the mutation sites, wherein the comparisoninformation includes InDel site and reference base support number, comparison quality, coverage depth, surrounding non-reference base and other insertion deletion mutations, surrounding read quality;and filtering to remove sites that do not reach the set threshold according to statistical information to obtain mutation results. The method does not require partial assembly, and filters second-generation sequencing data in advance to quickly eliminate most of false positive results caused by the comparison, reduces detection running time and computing resources, improves detection efficiency, has strong sensitivity and specificity, and can quickly and accurately detect InDel mutations.
Owner:深圳裕策生物科技有限公司

Resolving genome fractions using polymorphism counts

Methods of reliably estimating genomic fraction (e.g., fetal fraction) from polymorphisms such as small base variations or insertions-deletions are disclosed. Sequenced data from a multigenomic source is used to determine allele counts for one or more of the polymorphisms. For one or more of the polymorphisms, zygosity is assigned, and genomic fraction is determined from the zygosity and allele counts. Certain embodiments employ SNPs as the relevant polymorphism. The disclosed methods can be applied as part of an intentional, pre-designed re-sequencing study targeted against known polymorphisms or can be used in a retrospective analysis of variations found by coincidence in overlapping sequences generated from maternal plasma (or any other setting where a mixture of DNA from several people are present).
Owner:VERINATA HEALTH INC

Fluorescent labeling complex amplification kit for insertion-deletion (InDel) polymorphism detection, and application of kit

The invention discloses a fluorescent labeling complex amplification kit for insertion-deletion (InDel) polymorphism detection, and application of the kit. The kit comprises thirty-four InDel polymorphic sites and a sex locus (amelogenin). The fluorescent labeling complex amplification kit can be used for detecting the thirty-four InDel polymorphic sites and the one sex locus (amelogenin) at the same time; the kit can be used for detecting and genotyping 456 unrelated individuals from different ethnic groups from all over the country, has a cumulative personal identification rate reaching 0.99999985, and has a cumulative non-parent exclusion rate of 0.9989; the results prove that the kit is accurate in genotyping results, good in repeatability, high in sensitivity and accurate in genotyping results; therefore, a new method is provided for genetic relationship identification, sibling identification, individual identification, medical diagnosis, and the like.
Owner:JIANGSU SUPERBIO LIFE SCI CO LTD +1

Method for identifying reality and purity of pepper male sterile three-line mating hybrids based on InDel (insertion-deletion) molecular markers

The invention provides a method for identifying reality and purity of pepper male sterile three-line mating hybrids based on InDel (insertion-deletion) molecular markers. The method includes the steps: culturing the pepper hybrids and parents to a bud and seedling stage; extracting DNA (deoxyribonucleic acid); screening the hybrids and the parents by core primers. Primers of co-dominant markers can serve as molecular markers for identifying the reality of the hybrids, and co-dominant markers of the pepper hybrids and the parents continues to be screened by combining a secondary core primer library until the co-dominant markers are screened out if the co-dominant markers of the pepper hybrids and the parents cannot be screened out in a core primer library. According to the method, a systemcapable of rapidly and simultaneously identifying the reality and the purity of the pepper male sterile three-line mating hybrids is built and cannot be limited by time and seasons, indoor rapid identification of the reality and the purity of the hybrids is achieved, and molecular biology bases are provided for protection and market supervision of the pepper male sterile three-line mating hybrids.
Owner:QINGDAO AGRI UNIV

Hybrid capture kit and method for detecting tumor individually-medicated sixteen gene hot spots

ActiveCN107858426AComprehensive tumor individualized drug selectionComprehensive genetic testingMicrobiological testing/measurementInsertion deletionMutation frequency
The invention discloses a hybrid capture kit for detecting tumor individually-medicated sixteen gene hot spots. The hybrid capture kit comprises a hybridization reagent, a PCR amplification reagent and an enrichment degree detection reagent, wherein the hybridization reagent comprises an SEQ NO.1 to SEQ NO.396 probe mixture, a molar ratio of every two probes is 1:1, and the use volume of the probemixture with the concentration being 10 nM each during detection is 1 [mu]l. The kit is gene detection based on a second-generation sequencing technology, can detect three variation types (mutation,insertion deletion and fusion) one time, and uses a high sequencing depth to cover micro-scale gene variation in order to accurately detect the mutation condition of a patient on the premise of limited samples, and the mutation frequency of 1% can be accurately detected. Polygene and high-sensitivity parallel detection improves the detection rate of medicated gene variation, so the medication opportunity is not missed; and hot spots, rare and even unknown gene variation cane be detected during one-time detection, and relevant drug-resistant mutations (such as KRAS and ALK point mutation) are detected when drug-sensitive variation is found, so the sensitivity and drug resistance information of the medicated patient is accurately reflected.
Owner:SHANGHAI PASSION BIOTECHNOLOGY CO LTD

Method for detecting insertion-deletions polymorphism of sheep FTH-1 (ferritin heavy polypeptide1) genes by utilizing PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) and application thereof

The invention discloses a method for detecting insertion-deletions polymorphism of sheep FTH-1 (ferritin heavy polypeptide1) genes by utilizing PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) and application thereof. The method comprises the following steps: taking to-be-detected sheep whole genome DNA containing FTH-1 genes as a template, performing PCR amplification on the sheep FTH-1 gene segments, and performing detection and genotyping on the PCR product by utilizing the SSCP technology; and identifying the 639th locus insertion-deletions polymorphism of the sheep FTH-1 genes according to electrophoretic results. The method is a method for screening and detecting a molecular genetic marker which is closely related to reproductive performances of sheep on the DNA level so as to be used for assistant selection and molecular breeding of the sheep and acceleration of sheep stock breeding.
Owner:甘肃润牧生物工程有限责任公司

Identification method for hybrid rice variety hybrid source superior 69 based on InDel (insertion-deletion length polymorphism) marker

The invention belongs to the technical field of creature identification, and particularly relates to an identification method for a hybrid rice variety hybrid source superior 69 based on an InDel (insertion-deletion length polymorphism) marker. In the method, the whole genome DNA sequence of a japonica rice variety Nipponbare and the whole genome DNA sequence of an indica type rice variety 93-11 are compared to obtain 14 pairs of specific DNA primers designed for an insertion / deletion differential fragment; the hybrid source superior 69 and parent hybrid sources 5A and JP69 of the hybrid source superior 69 are subjected to DNA extraction, DNA fragment amplification and electrophoretic separation, and the electrophoretogram is analyzed for identifying the hybrid source superior 69; to be specific, a finger-print spectrum obtained through polymerase chain reaction and gel vertical slab electrophoresis is analyzed by virtue of the combination of the 14 pairs of InDel primers, and further, whether the variety is the hybrid rice variety hybrid source superior 69 or not is determined according to the electrophoretic band type of 14 InDel sites. According to the invention, the sample amount required to be detected is small, the method is simple, convenient and quick, and the identification result is accurate, so that the method can be applied to the variety identification of the hybrid source superior 69 on the market.
Owner:SHANGHAI JIAO TONG UNIV

Capture probe for DNA sample containing INDEL region, kit and library construction method

The invention provides a capture probe for a DNA sample containing an INDEL region, a kit and a library construction method. The capture probe comprises a first section of probe sequence which is complementarily paired with the left side of the INDEL region, a second section of probe sequence which is complementarily paired with the right side of the INDEL region, and a third section of probe sequence which is completely complementarily paired with the INDEL region. According to Indel (insertion-deletion fragment) of a target region, a mutated gene sequence is used as a reference sequence, andthree probes are designed for the Indel region and are respectively an Indel left side probe sequence, an Indel right side probe sequence and a probe sequence covering an Indel mutation site. The capture specificity and sensitivity of the three probes to the target Indel sequence are greatly improved, and the problems of low capture efficiency and low enrichment level of the Indel region of an important gene at present are effectively solved.
Owner:BEIJING USCI MEDICAL LAB CO LTD
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