106 results about "Genome human" patented technology

Contiguity information is important to achieving high-quality de novo assembly of mammalian genomes and the haplotype-resolved resequencing of human genomes. The methods described herein pursue cost-effective, massively parallel capture of contiguity information at different scales.

The invention relates to the role of genes in human diseases. More particularly, the invention relates to compositions and methods for identifying genes that are involved in human disease conditions. The invention provides identification and mapping of a very large number of SNPs throughout the entire human genome. This contribution allows scientists to isolate and identify genes that are relevant to the prevention, causation, or treatment of human disease conditions.

The invention relates to kits and methods for assessing skin health for a human and the human's susceptibility to skin disorders. The methods involve assessing occurrence in the human's genome of one or more polymorphisms (e.g., single nucleotide polymorphisms) that occur in one or more genes associated disclosed herein and that are associated with a disorder in humans. Preferred assessment and scoring methods are disclosed, as are kits for performing the methods.

Methods and devices for the regulation of matrix metalloproteinase gene expression in cartilage cells via the application of fields generated by specific and selective electric and electromagnetic signals in the treatment of diseased or injured articular cartilage. By gene expression is meant the up-regulation or down-regulation of the process whereby specific portions (genes) of the human genome (DNA) are transcribed into mRNA and subsequently translated into protein. Methods and devices are provided for the targeted treatment of injured or diseased cartilage tissue that include generating specific and selective electric and electromagnetic signals that generate fields optimized for reduction of matrix metalloproteinase gene expression and exposing cartilage tissue to the fields generated by specific and selective signals so as to regulate matrix metalloproteinase gene expression in such cartilage tissue. The resulting methods and devices are useful for the targeted treatment of osteoarthritis, rheumatoid arthritis, cartilage injury, cartilage defects, and tumor metastasis.

The invention discloses a HPV typing and integrated high-throughput sequencing detection method. The method selects the genes of the current HPV subtypes and combines the second-generation high-throughput sequencing technology to more comprehensively detect the type of HPV infection in patients. It overcomes the difficulties of low accuracy rate, high false positive rate, poor repeatability and high missed diagnosis rate of traditional detection methods. In the field of molecular diagnosis, the most direct and clear technology is gene sequencing. Compared with the current classic Sanger sequencing method, the second-generation high-throughput sequencing technology has higher detection throughput, faster sequencing speed, and higher accuracy. Advantages such as lower cost and richer information. With the help of the second-generation high-throughput sequencing technology, this method can accurately type high-risk HPV and low-risk HPV and detect whether it has been integrated with the human genome, and accurately and individually evaluate the tester to prevent The risk of lesions, thereby preventing the occurrence of tumors.

The invention provides a genome copy number variation detection method. The method comprises the following steps: acquiring a genome sequencing sequence of a to-be-detected sample; aligning the sequencing sequence to a human genome reference sequence, and determining the position of the unique alignment to the genome reference sequence; dividing the genome reference sequence into equal-length windows, and counting the number of sequencing sequences which fall into each window and are uniquely compared to obtain the effective data volume of each window; performing dynamic data correction on theeffective data volume of each window to obtain the corrected effective data volume of each window; standardizing the corrected effective data volume to obtain an effective depth value of each window;filtering noise by using a Fuded Lasso algorithm, and identifying a potential copy number variation region by constraining a differential item; and calculating a copy number value (SCN) in the potential copy number variation region, and comparing the copy number value (SCN) with the reference range of the copy number to obtain an accurate copy number variation detection result. The invention further provides a device and equipment for implementing the method. According to the method, a mathematical model for calculating the copy number SCN is established for the first time, and the referenceinterval of the copy number state of the genome region is determined. In addition, the noise in the sequencing data can be effectively processed, and the copy number variation region can be accuratelyidentified.

The present application relates to novel composite primers which make it possible to amplify in multiplex at a quantitative level of precision, and to the application of these composite primers for detecting gnomic rearrangements in general and cryptic chromosomal rearrangements in particular. These composite primers contain a tag the sequence of which is absent from or poorly represented in the genome analyzed, and which exhibits a very low propensity to form stable pairings. The composite primers, which contain them, make it possible to carry out multiplex amplifications with quantitative precision on the scale of a genome such as the human genome.

The invention relates to the field of gene detection, in particular to a capturing probe for detecting human genome mutation load based on high-throughput sequencing and application thereof. The capturing probe for detecting the human genome mutation load based on high-throughput sequencing, provided by the invention, comprises a capturing probe 1, a capturing probe 2 and a capturing probe 3; the sequences of the capturing probe 1 are shown as SEQ ID NO. 1-275; the sequences of the capturing probe 2 are shown as SEQ ID NO. 276-550; the sequences of the capturing probe 3 are shown as SEQ ID NO. 551-825; the probe designed and synthesized by the invention can capture an encoding exon area in a human genome target area and an exon and intron junction area, the nonspecific capture is reduced, and meanwhile, the hybrid temperature is uniform. As the capturing probe provided by the invention is adopted for capturing the human genome target area, the sequencing depth is significantly improved, so that mutation load test results are highly correlated with WES, the detection cost and the sequencing data volume are greatly reduced, and the single sample analysis time is shortened.

The invention belongs to the field of bioinformatics, and discloses a CRISPR off-target effect prediction method based on deep learning. According to the method, information of a human genome is utilized by using a BERT model, priori information of the genome is effectively utilized, the data is effectively reinforced, and obtained characteristics are input to a LightGBM method for training and predication. The problems of small data volume and data imbalance are solved, effective prediction of the CRISPR off-target effect is realized, and the CRISPR off-target effect prediction method has high popularization and application values.

The present invention relates to the field of biological gene technology detection, and specifically relates to a method and a kit for detecting mutational load of human genome based on high-throughput sequencing. The method for detecting the mutational load of the human genome based on high-throughput sequencing is as follows: extracting a genomic DNA double stranded nucleic acid sample from a blood and tissue sample, loading the genomic DNA double stranded nucleic acid sample onto a machine for sequencing the determination area 0.8-2.4Mb of the sample to obtain a nucleic acid sequence of the blood and tissue sample, performing automatic processing on the obtained nucleic acid sequence, and calculating the number of mutation sites in the tissue sample according to the formula of mutational load = the total number of mutations in the determination area of the sample / the size of the determination area of the sample to obtain the number of the mutational load. The specific area is selected for target sequencing, double samples are used for paired detection, sequencing depth is simultaneously increased, sequencing accuracy and sensitivity can be improved, and the required amount of data for the sample is small. The present invention also provides the kit for detecting the mutational load of the human genome used for the method.

In the current invention the application of our novel informatics approach to the databases containing nucleotide and peptide sequences from the human genome generates the sequence of many peptides which form the basis of an innovative and novel approach to developing new therapeutic agents. This invention claims the use of specific complementary peptides to the proteins encoded in the human genome as reagents and drugs for drug discovery programmes.

High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

Novel human polynucleotides are disclosed that correspond to human gene trapped sequences, or GTSs. The disclosed GTSs are useful for gene discovery and as markers for, inter alia, gene expression analysis, identifying and mapping the coding regions of the mammalian, and particularly human, genome, forensic analysis, and determining the genetic basis of human disease.

The present invention relates to single nucleotide polymorphism (SNP) which can be used for Alzheimer's disease risk prediction. The SNP is rs405509 and is located on chromosome 19, 44905579 on the basis of human genome map GRCh38.p7. The present invention suggests that T allele of rs405509 plays the role of further increasing the risk of dementia of APOE E4/E4. The result of cerebral cortical thickness and hippocampal volume comparison between APOE genotypes suggests that the contraction of E4/E4 is greater than E3/E3 in Asians. The cerebral cortex of people having rs405509 T/T genotype among Caucasians having E4/E4 genotype is more severely atrophied. Therefore, the present invention enables confirmation of rs405509 T/T polymorphism along with APOE E4/E4 and thus can be used for diagnosing or risk-predicting Alzheimer's disease and/or dementia due to Alzheimer's disease.

The invention discloses construction and use methods of two human genome editing tools. Each of the two human genome editing tools is formed by combining an RTgRNA molecule and a corresponding gene editing fusion protein. Each fusion protein is mainly formed by connecting a modified Cas protein and a modified reverse transcriptase. Each editor can alter the genomic DNA of a human cell. The DNA changing mode comprises short fragment deletion, DNA base addition and DNA base replacement. The two genome editing tools have the characteristics of ultrahigh accuracy, high expected product purity, extremely low damage to cells, strong expansibility, capability of realizing various editions, easier design, lower cost, capability of simultaneously editing multiple sites and the like.