11 results about "Chromosome abnormality" patented technology

The application discloses a method for detecting glioma chromosome abnormalities based on targeted sequencing, and belongs to the technical field of biological medicine. The method first acquires the allele frequency of a to-be-detected sample at preset SNP sites (covering 1p, 1q, 19p, 19q, chromosome 7 and chromosome 10), and then calculates and determines whether specific chromosome arms or chromosomes have loss of heterozygosity. Meanwhile, the copy number of the region where each SNP site is located is calculated based on the sequencing depth, and the total copy number of the above-mentioned chromosomes is obtained by integration. Finally, the loss of heterozygosity determination result and the chromosome copy number information are comprehensively combined, so that the simultaneous identification of 1p / 19q co-deletion, gain of chromosome 7 (+7) and deletion of chromosome 10 (-10) is realized. The method does not require paired samples, can accurately quantify the copy number, avoid false positives, and only needs to detect part of the SNP sites, that is, can be combined with hot spot mutation detection, thereby saving cost and improving detection efficiency.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

This invention discloses a method for rice to withstand heat stress. RMI1 Genes and their applications. Among them... RMI1 The nucleotide sequence of the gene is shown in SEQ ID No. 1, and the amino acid sequence of the protein it encodes is shown in SEQ ID No. 2; this invention verifies RMI1 The function of the gene, RMI1 protein is located in the cell nucleus, rmi1-1 In mutants RMI1 The deletion of 33 base pairs in the gene results in the loss of 11 amino acids in the RMI1-1 protein, making... rmi1-1 High temperatures during the seedling stage cause a large number of abnormal chromosomes to adhere and fragment during the late mitotic phase of root tip cells, resulting in stunted plant growth and development. rmi1-1 High temperatures during the reproductive growth period of plants lead to a large number of chromosome fragments and adhesions in the late stage of meiosis I, resulting in sterility; high temperatures also affect the interaction between RMI1-1 protein and topoisomerase TOP3α and helicase RECQ4. rmi1-cr3 Frameshift mutations lead to abnormal embryo and endosperm development; overexpression RMI1 This invention can enhance the heat resistance of rice. RMI1 The analysis of gene function provides genetic resources for the breeding of heat-resistant rice varieties.

The invention provides a chromosome karyotype image automatic identification method and system based on artificial intelligence, and relates to the technical field of image automatic identification, and the method comprises the steps: extracting a plurality of stripe cross section contours which are distributed at equal intervals in the length direction of a chromosome in a chromosome karyotype image; constructing a striated section contour sequence of the chromosome; inputting the striated section contour sequence into a pre-trained recurrent neural network, outputting striated contrast at each section position by the recurrent neural network, and generating a striated degeneration curve of the chromosome according to the striated contrast at the adjacent section position; and extracting an attenuation coefficient of the banding contrast of the banding degeneration curve along the long axis of the chromosome, when the attenuation coefficient is smaller than a preset threshold value, judging that the banding distortion of the chromosome is enzymolysis transition type artificial distortion, and otherwise, judging that the real structure is abnormal. According to the method and the device, accurate identification of the chromosome enzymolysis excessive type striated distortion can be realized, so that artificial distortion and chromosome real abnormality are distinguished.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

The application discloses a chromosome abnormality detection method, system and device, and relates to the technical field of medical image analysis. The method comprises the following steps: acquiring a chromosome patch sequence of a karyotype image; adopting a pre-trained convolutional neural network to extract local features of each patch in the chromosome patch sequence, converting the local features into an embedded vector sequence containing chromosome position semantics, inputting the embedded vector sequence into a multi-layer Transformer encoder after triple position coding to perform global correlation modeling, and outputting global features and patch features; performing chromosome position recognition based on the patch features to assist chromosome abnormality binary classification based on the global features, and outputting a probability distribution of the chromosome abnormality. The method significantly improves the missed detection rate of small-range structural abnormalities and the detection accuracy of global abnormalities such as translocation between chromosomes.

The invention relates to the technical field of bioinformatics and high-throughput sequencing data analysis, in particular to a genome anomaly detection system and method based on a VAF distribution heat map. The method comprises the following steps: obtaining to-be-detected genome sample data and corresponding reference genome sample data, carrying out folding processing on a VAF value, carrying out two-dimensional binning to obtain a counting matrix, carrying out Gaussian smoothing to construct a VAF distribution heat map, normalizing the counting matrix into a probability matrix, smoothing the probability matrix, setting LFC of a low coverage area as NaN, constructing a mask, screening connected domains, and sorting according to positions. Merging intervals with small gaps or overlapped intervals, and outputting a BED format two-dimensional abnormal rectangular interval; according to the method, a detection result consistent with that of mature CNVkit / UPDio analysis is obtained, and various anomaly types such as whole chromosome anomaly, chimeric deletion and focal UPD can be accurately identified.

The application provides a template image-based bone marrow abnormal chromosome detection method, device and medium. The method comprises: acquiring a bone marrow chromosome image to be detected; determining a target category of chromosomes in the bone marrow chromosome image through a trained and tested classification model; selecting a template image corresponding to the target category from a template library, wherein the template library stores a plurality of images representing normal bone marrow chromosomes; inputting the template image and the bone marrow chromosome image into a trained and tested difference analysis model to obtain a detection result, wherein the detection result comprises identification information representing whether the chromosomes in the bone marrow chromosome image are normal or abnormal, and an abnormal type corresponding to the abnormality when the chromosomes are abnormal. In this way, the accuracy of chromosome abnormality detection can be improved.

The invention discloses an oligonucleotide probe pool for detecting a Z chromosome and a W chromosome of a chicken and an application of the oligonucleotide probe pool. The oligonucleotide probe pool comprises a Z chromosome DMRT1 gene oligonucleotide probe pool: at least 500 kinds of Z chromosome DMRT1 gene oligonucleotide probes which are reversely complementary with coding and non-coding regions in a Z chromosome DMRT1 gene; the W chromosome Wpkci gene oligonucleotide probe pool comprises at least 500 kinds of W chromosome Wpkci gene oligonucleotide probes which are reversely complementary with coding and non-coding regions in the W chromosome Wpkci gene, and the fluorescence mark of the oligonucleotide probe targeting the Z chromosome DMRT1 gene is different from the fluorescence mark of the oligonucleotide probe targeting the W chromosome Wpkci gene. The method has the remarkable advantages of high resolution, high specificity, low cost, simplicity and convenience in preparation, high flexibility, high throughput detection capability and the like; the practical application effect of the method is fully embodied in chicken sex identification, chromosome abnormality detection, genome research and poultry breeding, powerful technical support can be provided for related fields, and the method has wide market prospects and application value.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.