4 results about "Chromosomal region" patented technology

An RNA interference-based product and method for inhibiting the expression of the double homeobox 4 (DUX4) gene on human chromosome 4q35 are disclosed. The invention comprises the silencing of the Cas13 protein of RNA, wherein Cas13 is specifically targeted to a DUX4 region of interest using a sequence-specific guide RNA (gRNA). The recombinant adeno-associated virus of the invention is constructed with a Cas13 direct repeat sequence and delivers DNA encoding an inhibitory gRNA that knocks down DUX4 expression. The method is applicable to the treatment of muscular dystrophy, including but not limited to facial-scapulohumeral muscle dystrophy (FSHD), and other disorders, including cancer, associated with elevated DUX4 expression.

This invention belongs to the field of molecular genetics and shellfish genome engineering, and particularly relates to a safe harbor region of the oyster genome for stable integration of exogenous genes and a screening method. The safe harbor region is a region for stable integration and expression of exogenous genes, located in different chromosomal regions of the oyster genome, in a non-open chromatin state, and meeting the following conditions: (1) the region is located on chromosomes and scaffolds, and has no coding genes / lncRNAs; (2) the region has no ATAC-seq signal; (3) the region length is 5.25–14.84 kb; (4) the average methylation level of the region is 0–0.161765; (5) the PAM (NGG) density of the region is 38.68–81.35 PAM / kb. This invention provides a reproducible and scalable general technical platform for the stable expression of oyster gene knock-in fragments and the study of their gene function.

The application discloses a methylation marker combination of esophageal cancer and application, a kit, a system, a model construction method and a nucleic acid fragment combination. The methylation marker combination of the esophageal cancer comprises at least 10 regions in 37 chromosomal regions defined by Hg38 coordinates. The methylation marker combination of the esophageal cancer provided by the application has high sensitivity to the esophageal cancer, and can be used for early screening of esophageal cancer risk and screening of the esophageal cancer.

This invention relates to the field of gene testing data compression technology, and discloses an intelligent compression processing method for gene testing data. This invention divides compression blocks by genetic marker names, sample identifiers, chromosomal regions, or gene functional regions as boundaries, assigns an independent compression context to each block, and blocks do not share any compression dictionary or encoding state. A global index mapping table containing exclusion marker bits is established, and a writable marker area physically separated from the data area and index area is defined at the end of the compressed file. Operation records are linked into an immutable chain structure using the national cryptographic SM3 hash chain. This invention can also dynamically select the compression method based on population genetic parameters and perform Mendelian genetic tests during the compression stage to force lossless compression of genetically inconsistent sites. This invention achieves on-demand decompression at the business semantic granularity, balancing storage efficiency and data accuracy, and meeting the requirements of immutability of original data for forensic identification and judicial auditing.