12 results about "Chromosome Disorder" patented technology

The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality in the fetal DNA. Kits for carrying out the methods of the invention are also provided.

This invention relates to the field of chromosome abnormality recognition technology, specifically to a chromosome abnormality detection method based on a multimodal large model. The method includes: constructing an image dataset and a text dataset; fusing image features and text features to obtain multimodal fusion features; assigning anomaly scores to image blocks belonging to band regions based on anomaly scoring rules formulated from the multimodal fusion features, and comprehensively processing the anomaly scores of all image blocks corresponding to the chromosome to determine whether the chromosome image is abnormal; and decoding and generating natural language text that meets the requirements of chromosome abnormality detection based on the multimodal fusion feature representation and anomaly scoring rules. This invention achieves accurate chromosome abnormality detection and band location positioning through multimodal fusion and dynamic text generation mechanisms, generating interpretable natural language text descriptions, and improving the practicality and interpretability of the detection results.

The invention relates to the field of bioinformatics and artificial intelligence analysis, in particular to a chromosome anomaly detection system and method based on a random forest model. According to the method, variation detection is carried out on the purified file, base replacement, insertion and deletion events are recognized, the allele frequency of each variation site is calculated, a standardized VCF format file is generated, the allele frequency spectrum of the variation sites is divided into a plurality of continuous intervals according to the preset step length, and the variation sites are extracted. Counting the number of sites of the sample data falling into each interval in a whole genome range and on each chromosome, and carrying out normalization calculation to generate a standardized feature vector; a random forest classification model trained by historical sample sequencing data with diagnosis tags is adopted to automatically judge all chromosome anomalies of the samples based on the standardized feature vectors of the samples; the method is superior to the existing SNP Array technology in the aspects of detection precision, detection range, chimeric recognition capability, intelligent degree, platform compatibility and the like.

The invention discloses an RIF whole course management method, which comprises the following steps: by adopting a next generation sequencing (NGS) technology, 24 chromosomes can be covered, whole chromosome aneuploidy can be screened, the detection resolution is below 1Mb, and microdeletion / microrepetition can be identified. Compared with a traditional array-CGH technology, the method has the advantages that the epiploid embryo screening precision is remarkably improved by 30%, high-quality embryos with normal chromosomes can be selected, the embryo implantation success rate is greatly improved, the abortion risk is reduced, bad pregnancy knots caused by chromosome abnormality are reduced, embryo development is dynamically recorded with the frequency of one frame every 10-20 minutes through a time-difference imaging system, and the screening accuracy of the epiploid embryos is improved. Key time nodes are analyzed through an AI algorithm, an embryo potential scoring model is constructed in combination with morphological parameters, and the prediction implantation probability accuracy rate reaches 75% or above. Scientific basis is provided for clinicians to select the embryo with the highest implantation potential, blind transplantation is avoided, and the success rate of test tube babies is increased.

The invention discloses a method for improving collagen yield of mesenchymal stem cells and engineered mesenchymal stem cells for high-yield collagen. The method comprises the following steps: designing at least one guide RNA (Ribonucleic Acid), and gRNA targets a promoter region of a collagen gene; the method comprises the following steps: introducing a composition containing gRNA and an expression vector for coding a CRISPR activation system into MSCs; forming a compound in the MSCs, specifically binding the compound to a collagen gene promoter region, and activating the transcription of the collagen gene; engineering MSCs with the expression quantity higher than that of untreated MSCs are screened and separated. The content of collagen produced by the method disclosed by the invention is obviously increased. Meanwhile, the effect is stable, the cell strain is not easy to lose along with cell division, and the yield of the screened cell strain is highly uniform and stable. More importantly, in the aspect of safety, the core CRISPRa method does not cut DNA, so that off-target damage and chromosome abnormality risks caused by DNA breakage are avoided, the potential risk is smaller, and it is ensured that the improved collagen really has biological functionality.

The present disclosure relates to methods for increasing telomere length in one or more human cells and / or increasing genome stability of one or more human cells, for example by contacting one or more human cells with an agent that increases expression of Zscan4 in the one or more human cells. Methods of treating a subject in need of telomere lengthening, treating a disease or condition associated with a genomic and / or chromosome abnormality, of rejuvenating one or more human cells, of rejuvenating tissues or organs, and of rejuvenating a subject in need thereof, for example by contacting one or more human cells in the subject with an agent that increases expression of Zscan4, or by administering to a subject in need thereof, an agent that increases expression of Zscan4 are also provided.

The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality in the fetal DNA. Kits for carrying out the methods of the invention are also provided.

The invention discloses application of a low-preference polymerase chain reaction buffer solution and a product, and relates to the technical field of molecular biology. The low-preference polymerase chain reaction buffer solution is prepared from 20 to 35 mM of Tris-HCl, 15 to 30 mM of K < + >, 1.5 to 2.2 mM of Mg < 2 + >, 0.6 to 1.0 M of betaine, 2.5 to 4.0 percent of dimethyl sulfoxide, 0.3 to 0.8 mM of ferrous sulfate heptahydrate, 0.2 to 0.6 mM of trehalose, 0.5 to 1.5 percent of NP-40, 0.2 to 0.5 mg / mL of recombinant escherichia coli single-chain binding protein and 0.5 to 1.0 mM of dithiothreitol; on the premise that the amplification yield is not reduced, the human whole genome GC preference coefficient is reduced to be smaller than or equal to 0.1, the coverage uniformity CV is smaller than or equal to 0.18, 0.1-50 ng of initial DNA is compatible, and the chromosome abnormality detection accuracy is improved.

The present invention relates to a compound of formula (I) or a pharmaceutically acceptable salt or solvate thereof for use in the treatment of a myeloid disorder, such as acute myeloid leukemia (AML), in a subject having at least one chromosomal abnormality of 3q21 and / or 3q26.

The invention discloses a multi-model-based NIPT chromosome abnormality determination method and system, and belongs to the technical field of noninvasive prenatal detection. Comprising the following steps: S1, collecting samples and processing feature data; s2, selecting a traditional Z value rule as a baseline, and constructing a fusion system comprising six core models for multi-model training; s3, performing comprehensive evaluation and decision logic, and comprehensively evaluating the performance of the six models by adopting four types of indexes; s4, performing multi-dimensional visual chart clinical interpretation, integrating six charts, and accurately positioning decision points through a traditional model and deep learning fusion architecture and dynamic threshold optimization in combination with F2 scores; and S5, screening high-contribution characteristics based on multi-model output, carrying out secondary decision-making by adopting SHAP analysis, determining association with clinical prediction and an abnormal judgment range, and finally verifying an analysis result through random sampling. According to the method, high-precision and dynamic fetus chromosome abnormality screening without Y chromosome signals can be realized, and scientific and transparent decision support is provided for prenatal and postnatal rearing.

The utility model discloses a multifunctional culture shelf for a bone marrow chromosome culture medium, which belongs to the technical field of bone marrow chromosome culture, and is characterized by comprising a box body, upright posts are fixedly connected to four corners in the box body, and a plurality of placing components are movably connected between opposite sides of the upright posts on two sides; the rear side of the interior of the box body is fixedly connected with an adjusting assembly, the adjusting assembly comprises a main plate, and the front side of the main plate is fixedly connected with a plurality of ultraviolet germicidal lamps. The problems that the temperature of a culture environment is inconvenient to adjust, and too high or too low temperature possibly affects the activity of bone marrow cells and hinders normal replication and separation of chromosomes, so that culture failure or chromosome abnormality is finally caused, culture of bone marrow chromosomes is affected, and the practicability of the device is reduced are solved.

The present disclosure relates to methods for increasing telomere length in one or more human cells and / or increasing genome stability of one or more human cells, for example by contacting one or more human cells with an agent that increases expression of Zscan4 in the one or more human cells. Methods of treating a subject in need of telomere lengthening, treating a disease or condition associated with a genomic and / or chromosome abnormality, of rejuvenating one or more human cells, of rejuvenating tissues or organs, and of rejuvenating a subject in need thereof, for example by contacting one or more human cells in the subject with an agent that increases expression of Zscan4, or by administering to a subject in need thereof, an agent that increases expression of Zscan4 are also provided.