11 results about "Chromosomal 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.

Provided herein are methods of identifying a subject as having a central nervous system (CNS) cancer that include (a) obtaining a DNA sample from the subject; (b) analyzing a plurality of chromosomal sequences in the DNA sample; (c) determining at least a portion of a nucleic acid sequence of one or more of the plurality of chromosomal sequences; (d) mapping the determined nucleic acid sequence to a reference chromosome; (e) dividing the DNA sample into a plurality of genomic intervals; (f) quantifying a plurality of features for the one or more nucleic acid sequences mapped to the genomic intervals; and (g) comparing the plurality of features in a first genomic interval with the plurality of features in one or more different genomic intervals and detecting a chromosomal abnormality in the DNA sample, thereby identifying the subject as having the CNS cancer.

The present application relates to the assisted evaluation method of the second biopsy in the pre-implantation genetic testing. The blastocyst first biopsy process collects and cryopreserves the corresponding biopsy droplet; for the blastocyst with CNV detection failure or suspected abnormal CNV detection result in the first biopsy cell, the first biopsy droplet is thawed to complete genome amplification, CNV library construction, high-throughput sequencing and CNV analysis, and the second biopsy suggestion is given according to the detection result. If the biopsy droplet detects the abnormal aneuploidy or chimera clinically interpreted, it is suggested that the corresponding blastocyst has a high probability of chromosomal abnormality, and the second biopsy is not recommended; if the biopsy droplet does not detect the abnormal aneuploidy or chimera clinically interpreted, it is suggested that the corresponding blastocyst has a high probability of chromosomal normality, and the second biopsy is recommended. The present application proves that the first biopsy droplet contains detectable genetic material, and the consistency of the chromosomal ploidy detection result and the biopsy cell is more than 80%, which can assist the second biopsy decision and improve the decision efficiency and scientificity of PGT detection.

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

The invention discloses a system, equipment and medium for analyzing chromosome abnormality based on nanopore sequencing, and belongs to the technical field of genetic detection. The system, the device and the medium are based on the nanopore sequencing technology, the threshold value is constructed through the baseline sample, and detection of chromosome abnormality can be rapidly and accurately completed. According to the system, detection can be completed by utilizing low-depth and low-data-volume nanopore sequencing data, so that the detection cost is reduced, and the system has great clinical application and popularization values.

The invention provides a primer probe combination for detecting aneuploid abnormality of chromosomes, a kit and application, and belongs to the technical field of chromosome abnormality detection. The nucleotide sequences of the primer probe combination are as shown in SEQ ID NO.1-SEQ ID NO.150. The primer probe combination or the kit disclosed by the invention can be used for rapidly and simultaneously detecting whether the number of the chromosome 21, the chromosome 18, the chromosome 13, the chromosome X or the chromosome Y is abnormal or not, and the primer probe combination or the kit is high in detection speed, high in flux, low in cost and accurate in detection result. The invention plays a positive role in detecting chromosome aneuploid abnormality and preventing and controlling the chromosome aneuploid abnormality. The primer probe combination or the kit disclosed by the invention is expected to be applied to the fields of prenatal screening, prenatal diagnosis, neonatal hereditary disease screening and the like, has the advantages of rapidness, high efficiency, accuracy and the like, and provides a reliable basis for clinical emergency decision-making.

The present invention provides a method for detecting chromosomal abnormalities of embryos by using blastocyst culture medium without zona pellucida. Specifically, the present invention provides an in vitro non-therapeutic method for detecting chromosomal abnormalities of embryos by using blastocyst culture medium, comprising the steps of: (a) providing a culture medium from a blastocyst culture system, wherein the embryos in the blastocyst culture system have been stripped of zona pellucida before culture, and the embryos are cultured in the blastocyst culture system for 3-6 days, preferably 4 days, and then the culture medium is separated from the culture system; (b) performing genetic testing on the culture medium to identify whether the chromosomes of the embryos are abnormal. The method provided by the present invention can eliminate the risk of contamination and interference by excess sperm and maternal granulosa cells during the IVF and ICSI techniques, and can accurately identify whether the chromosomes of the embryos are abnormal.

The present invention relates to a method for detecting chromosomal abnormalities using distance information between nucleic acid fragments, more specifically, a method for detecting chromosomal abnormalities using a method of calculating the distance between reference values ​​of nucleic acid fragments after extracting nucleic acids from a biological sample and obtaining sequence information. The chromosomal abnormality determination method according to the present invention is an analysis method using the concept of distance between aligned nucleic acid fragments, unlike the conventional method that uses a step of determining chromosome amounts based on the number of reads. While the accuracy of conventional methods decreases as the number of reads decreases, the method of the present invention can increase detection accuracy even when the number of reads decreases. In addition, the detection accuracy is high even when analyzing the distance between nucleic acid fragments in a certain section rather than in all chromosomal sections, making it useful.

The present invention provides a method for determining the base type of a predetermined site in an embryonic cell chromosome. The method for determining the base type of a predetermined site in an embryonic cell chromosome comprises: (1) determining a linked haploid type block of the predetermined site based on sequencing results of the embryonic parent, the linked haploid type block including the predetermined site and the base type of the predetermined site-linked site in the parent; (2) determining sequence information of at least a portion of the embryonic genome based on sequencing results of the embryonic cell, the at least a portion of the embryonic genome including the predetermined site; and (3) correcting the base type of the predetermined site in the embryonic cell based on the linked haploid type block of the predetermined site to obtain the base type of the predetermined site; and (4) determining whether the embryonic genome has a chromosomal abnormality based on the sequencing results of the embryonic cell.

The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV.

A method and system for detecting fetal chromosomal abnormalities, the method comprising: (1) obtaining sequencing data and clinical phenotypic characteristic data of cell-free nucleic acid fragments of a pregnant woman to be tested, wherein the sequencing data includes a plurality of reads, and the clinical phenotypic characteristic data of the pregnant woman to be tested forms a phenotypic characteristic vector of the pregnant woman; (2) dividing at least a part of a reference genomic chromosome into windows to obtain a plurality of sliding windows, counting the reads falling into the sliding windows, and generating a sequence characteristic matrix of the chromosomal sequence; (3) inputting the sequence characteristic matrix into a trained machine learning model to extract a sequence characteristic vector of the chromosomal sequence; (4) combining the sequence characteristic vector and the phenotypic characteristic vector of the pregnant woman to form a combined characteristic vector, and inputting the combined characteristic vector into a classification detection model to obtain the fetal chromosomal abnormality condition of the pregnant woman to be tested.