4 results about "Pseudogene" patented technology

The current disclosure provides for methods and compositions for classifying subjects having different biological states. The disclosure describes a method comprising: filtering sequence data obtained from a sample from a subject based on long non-coding RNA (lncRNA) and / or pseudogene RNA (pgRNA), and / or the reference genome; determining a biological state classification of the subject by providing the filtered sequence data to one or more machine learning classifiers as input, wherein the one or more machine learning classifiers is trained to output biological state classifications based on filtered sequence data of a training data set.

The application provides a STRC gene copy number variation detection method based on whole genome sequencing. The STRC gene and the STRCP1 gene are subjected to sequence alignment to find each difference site of the STRC gene and the STRCP1 gene. For each difference site, the sequence of the corresponding STRC position and STRCP1 position in the genome is read from a variation detection file. The total copy number of the true gene and the false gene is calculated by taking the reference site in the genome as a reference. The STRC gene copy proportion on each difference site is calculated. The STRC gene copy number on each difference site is calculated according to the total copy number and the STRC gene copy proportion. The STRC gene copy number on each exon is determined according to the STRC gene copy number on each difference site. The method can realize the detection of the STRC copy number, simplifies the detection process, improves the detection throughput and reduces the cost.

The application provides a CYP21A2 gene mutation detection method, system and storage medium, comprising the following steps: identifying difference sites and homologous intervals by reference genome self alignment, and constructing a paralog characteristic site fingerprint library; constructing a Masker reference genome according to the homologous intervals on the reference genome, and obtaining a candidate variation list; using the physical link information of a double-end sequencing read pair and the characteristic site fingerprint library to determine the true or false gene source of each candidate variation; quantitatively calculating the true gene copy number based on re-alignment sequencing depth, background reference library and characteristic site allele frequency; and determining whether a recombination event occurs between the true gene and the false gene based on the physical link information of the double-end sequencing read pair across multiple characteristic sites. The application effectively distinguishes different copy states such as gene deletion, single copy, normal double copy and duplication, and assists in clinically determining gene deletion or duplication events.

The application relates to a gene mutation recognition method and system under coexistence of genes and pseudogenes. The gene mutation recognition method under coexistence of genes and pseudogenes in the embodiment of the application comprises the following steps: obtaining sequencing data of a sample to be detected, and obtaining specific nucleotide sites of a pseudogene in the case that a target gene exists; obtaining variation information recognized based on the sequencing data; and according to the variation information and the specific nucleotide sites, recognizing wrong alignment to identify mutation information of the target gene in the sample to be detected. The application does not need to design specific primers and perform amplification reaction, improves the efficiency of gene mutation detection, can exclude the interference of the pseudogene, and improves the stability and accuracy of the detection result.