4 results about "Chromosomal Abnormality" patented technology

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 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.