23 results about "Chromosome abnormality" patented technology

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 relates to the technical field of chromosome recognition, in particular to a chromosome anomaly detection data augmentation method based on a diffusion model, which comprises the following steps: acquiring and preprocessing a data image, and constructing a chromosome data set including an abnormal chromosome subset and a normal chromosome subset; through a central axis cosine scoring principle, quantificationally screening out chromosomes with overlarge bending degrees, and cutting and rearranging the screened-out normal chromosomes; the cut and rearranged chromosomes are simulated to construct structural abnormity and restored, and a simulated abnormity sample data set is constructed to expand an abnormal chromosome data set; and based on the expanded chromosome data set, introducing a dynamic sampling strategy and an energy score model to train a neural network to obtain an anomaly detection model. By simulating and restoring abnormal chromosomes of a construction structure, the authenticity and diversity of a data set are improved, the problems of chromosome abnormal data scarcity and data imbalance are solved, and the detection capability of a deep learning model on abnormal chromosomes is improved in combination with a dynamic sampling strategy based on energy fractions.

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 present application relates to the technical field of in-vitro diagnosis, and in particular to a cell detection kit for the abnormality of human chromosomes 3 and 10 and a use thereof. A probe set comprised in the kit uses a specific chromosome locus or a centromere as a target, or uses a combination of a plurality of specific chromosome loci or centromeres as a target, so that the kit can rapidly and effectively detect a variety of cancer samples comprising lung cancer, breast cancer, intestinal cancer, esophageal cancer, bladder cancer, liver cancer, gastric cancer, pancreatic cancer, ovarian cancer, cervical cancer or prostate cancer, and is suitable for cancer diagnosis and development and popularization of prognostic products.

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.

The invention belongs to the technical field of bamboo reed breeding, and discloses a mutation breeding method for obtaining a bamboo reed cold-resistant mutant based on EMS (Enhanced Mass Spectrometry), which comprises the following steps: step 1, inducing embryogenic callus; step 2, carrying out EMS mutagenesis treatment; step 3, performing EMS stress screening; 4, differentiation and rooting culture of adventitious buds; 5, screening the tissue culture seedlings at low temperature; the mutation obtained through mutagenesis treatment is a permanent change of a genetic structure of an organism and may appear in germ cells and somatic cells of a plant. Physical or chemical mutagenic agents are used to increase the frequency of mutations. In chemical mutagens, EMS is considered to be the most effective mutagen, the EMS can generate a large number of non-lethal point mutations in the whole genome, the mutation frequency is high, the chromosome abnormality frequency is low, the EMS is used for treating embryogenic calluses of the bamboo reeds, Hyp is used for screening, the low-temperature-resistant bamboo reed mutants are obtained, the planting area of the bamboo reeds can be enlarged, and the survival rate of the bamboo reeds is increased. And waste land in a low-temperature region is fully utilized.

The present application relates to the technical field of in-vitro diagnosis, and in particular to a cell detection kit for the abnormality of human chromosomes 3 and 10 and a use thereof. A probe set comprised in the kit uses a specific chromosome locus or a centromere as a target, or uses a combination of a plurality of specific chromosome loci or centromeres as a target, so that the kit can rapidly and effectively detect a variety of cancer samples comprising lung cancer, breast cancer, intestinal cancer, esophageal cancer, bladder cancer, liver cancer, gastric cancer, pancreatic cancer, ovarian cancer, cervical cancer or prostate cancer, and is suitable for cancer diagnosis and development and popularization of prognostic products.

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 invention belongs to the technical field of prenatal detection, and discloses application of a fetal side ventricle broadening karyotype-CNV-seq-WES stepped detection strategy in prenatal genetic counseling and clinical prognosis analysis, retrospective queue research design is adopted, 166 cases of FVM diagnosed by prenatal ultrasound are incorporated, and the detection strategy is applied to prenatal genetic counseling and clinical prognosis analysis. The system analyzes the relevance of FVM severity, anatomy types and chromosome abnormalities. The clinical application value of the genetic detection technology is evaluated by comparing genetic detection results and pregnancy outcomes of different subgroups. Through the analysis, more information is provided for the fetal medicine multidisciplinary team, so that the quasi parents are helped to obtain more comprehensive prenatal consultation and decision support.

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 present disclosure provides methods, systems, and compositions related to the analysis of cell-free DNA. The analysis of cell-free DNA may include detection of a code that is aligned with a target molecule of interest in the cell-free DNA, such as one or more variants associated with chromosomal anomalies, aneuploidies, single nucleotide polymorphisms, or a combination thereof.

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 present invention relates to the field of chromosome identification technology, and more specifically to a method for augmenting chromosome abnormality detection data based on a diffusion model. The method collects and preprocesses data images to construct a chromosome dataset, including a subset of abnormal and normal chromosomes. The method then quantitatively removes chromosomes with excessive curvature using the central axis cosine scoring principle, and then cuts and rearranges the normal chromosomes after removal. The cut and rearranged chromosomes are simulated to construct structural abnormalities and then restored to construct a simulated abnormal sample dataset for augmenting the abnormal chromosome dataset. Based on the augmented chromosome dataset, a dynamic sampling strategy and an energy score model are introduced to train a neural network to obtain an abnormality detection model. By simulating and restoring structurally abnormal chromosomes, the authenticity and diversity of the dataset are improved, addressing the scarcity and imbalance of chromosome abnormality data. Combined with a dynamic sampling strategy based on energy scores, the deep learning model's ability to detect abnormal chromosomes is enhanced.

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 present invention belongs to the technical field of biomedical image processing and analysis, and specifically discloses a chromosome abnormality detection method based on image analysis, comprising: obtaining a user chromosome microscopic image set and extracting a multimodal feature data set for processing to obtain abnormal chromosome feature data of the abnormal tracking area, and collectively processing to obtain an abnormal risk assessment index, and then correcting it in combination with abnormal identification coefficients of multiple historically similar abnormal samples to obtain an abnormal risk correction index, and evaluating and processing the acquired clinical test data set corresponding to the abnormal tracking area in combination with genetic background feature data to obtain a genetic risk determination index of the abnormal tracking area, and then comparing it with the abnormal risk correction index to obtain an abnormal assessment matching coefficient, and verifying the abnormal assessment result through threshold comparison, thereby achieving efficient identification and accurate assessment of multiple complex chromosome abnormality types, and combining genetic background information and clinical data for comprehensive risk assessment to improve the reliability of the test results.

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 relates to the technical field of chromosome anomaly recognition, in particular to a multimodal large model-based chromosome anomaly detection method, which comprises the following steps of: constructing an image data set and a text data set; fusing the image features and the text features to obtain multi-modal fusion features; performing abnormal scoring on the image blocks belonging to the stripe region based on an abnormal scoring rule formulated by the multi-modal fusion features, performing comprehensive processing on the abnormal scores of all the image blocks corresponding to the chromosomes, and judging whether the chromosome images are abnormal or not; and based on the multi-modal fusion feature representation and the anomaly scoring rule, decoding to generate a natural language text meeting the chromosome anomaly detection requirement. Through multi-modal fusion and a dynamic text generation mechanism, chromosome anomaly detection and strip position accurate positioning are realized, interpretable natural language text description is generated, and the practicability and interpretability of a detection result are improved.

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.