159 results about "Genomic information" patented technology

A healthcare mass customization infrastructure individualizes plan designs by incorporating demographics, income, drug history, medical history, lab values, and future genomic information for appropriate and affordable access to medications. The mass customization infrastructure results in quality outcomes for the patients, improved care and productivity for the providers, and lower medical costs for the payers.

The present invention provides methods for the sequencing of all RNA species within an RNA sample, such as the RNA content obtained from a cell, a tissue, a living organism, or from an artificial source. RNA molecules within the samples are labeled in a RNA-specific manner prior to immobilization on a solid support. One label is used to mark the location of the RNA molecule on the solid support, whereas the second label is used to mark selectively the S′ end of full-length mRNA molecules. RNA molecules are sequenced while being bound to the solid support in one or more sequencing reactions, and sequences of individual RNA molecules can be forwarded to computational analysis for assembling sequence information from individual sequencing reads obtained from the same location on the solid support. Not only unsupervised expression profiling on a genome-wide scale, but also the direct analysis of RNA-RNA interactions become possible as revealed by the analysis of the sequencing information obtained along with genomic information.

A system and method for processing and storing personal information in a secure manner is described. In particular, a system and method for processing, splitting and storing genomic information or portions thereof in a secure electronic format is disclosed. An individual's genomic sequence is digitized and a splitting algorithm applied to fragment and randomise the digitized genomic information into at least two separate datasets. One dataset is retained by the individual and the second dataset is stored on a central server as a secure database record. Each dataset in isolation presents uninformative data and it is only when both datasets are combined, using a reconstruction algorithm to recombine the separate dataset data for an individual that the digitized data is capable of being presented into a useable and informative format.

A system, for processing patient medical information for storage in an electronic patient medical record repository, includes an interface, a repository, and a data processor. The interface receives data representing genomic information of a patient. The repository includes a patient record incorporating data representing genomic information specific to a particular patient. A data processor compares the genomic information specific to a particular patient with the received genomic information. The data processor identifies a genomic match in response to the comparison and predetermined matching criteria. The data processor initiates processing of patient record information specific to the particular patient in response to an identified match.

Disclosed herein are methods for single-cell sequencing. In some examples, the methods include enriching a sample comprising a plurality of cells for cells of interest to produce an enriched cell sample; isolating one or more cells of interest in the enriched cell sample; and obtaining sequence information of one or more polynucleotides from each of the one or more isolated cells. Obtaining sequence information may include generating a molecularly indexed polynucleotide library from the one or more isolated cells. Enriching the sample may include focusing cells of interest in the sample using acoustic focusing.

The invention described herein solves the challenges encountered in searching for clinical and genomic information from multiple data sources. Systems, methods, and devices of the invention allow a user to search a number of dissimilar information sources simultaneously, and view, process, and perform correlations on the information. The invention uses faceted search to process clinical values, genomic data, subject characteristics, and population characteristics, thereby providing a user with an array of information useful for monitoring or improving the state of health of a subject or a subject population. The invention allows a user to evaluate clinical and research information in a subject-centric way, and analyze information at either the individual or the population level.

Methods and systems for filtering variants in data sets comprising genomic information are provided herein.

The invention discloses a cancer chemosensitivity prediction technique based on a molecular subnet and a random forest classifier. The method is characterized by comprising the steps of fusing data of oncogene expression profile, information of tumor mutation genome information and information of protein-protein interaction group, and excavating carcinogenic and cancer suppressor gene molecular subnets to realize feature extraction; taking the feature extraction as an input feature, designing a training model based on a random forest algorithm, and using the training model to be used for the testing of an independent test set, so as to obtain a chemosensitivity assessment of a patient. If the method provided by the invention is used for screening patients with effective chemotherapy effects before chemotherapy, the method has a significant meaning on cancer therapy.

The embodiment of the invention discloses a universal primer mixture for animal mitochondria genome amplification as well as a design and amplification method thereof, and a kit comprising the universal primer mixture. By utilizing the primer mixture or the kit and the animal mitochondria genome amplified method and combining the novel high throughput sequencing technique, the animal mitochondria genome information can be efficiently obtained in low cost.

The invention discloses a method for utilizing machine learning to predict a complex disease susceptibility locus. The method comprises the following steps of 1, collecting a known complex disease susceptibility locus as a positive set of a machine learning model, predicting a locus irrelevant to a complex disease according to the positive set as a negative set, and annotating an epigenetic regulation element; 2, utilizing machine learning to establish a complex disease epigenetic model; 3, predicting all loci in a whole-genome range according to the established model to obtain a final prediction result as a potential susceptibility locus of the complex disease. According to the method for utilizing machine learning to predict the complex disease susceptibility locus, epigenetic information and genome DNA information are combined, epigenetic element features are extracted through machine learning, the susceptibility locus of the complex disease is further predicted in a whole-genome range, heritability explained by the found susceptibility locus can be obviously improved, and a potential target is provided for subsequent medicine design and disease detection.

The present invention is a system and method for utilizing human genetic and genomic information to guide prescription dispensing and improved drug safety in a pharmacy setting. The system and method of the present invention utilizes a dedicated information management system and software to utilize patient-specific genetic information to screen for increased risk of adverse drug reactions and therapeutic responses at the time of drug dispensing.

A computer-based method is provided for transferring data that includes a genomic sequence. The method includes identifying at least one genomic base in an input data stream comprising said genomic sequence; assigning a base-specific binary code to the at least one genomic base; grouping the base-specific binary code to form a genomic data stream representative of the genomic sequence; assigning a command binary code to at least one command for selectively processing said genomic data stream; and integrating said genomic data stream and said command binary code to form an output binary data stream.

The present invention relates to a method for processing and / or providing genomic, proteomic, biochemical, and / or metabolic information collected from at least one subject wherein the processing and / or providing of the information is under the control of the subject. There is also provided an apparatus and a system for processing and / or providing of genomic, proteomic, biochemical, and / or metabolic information.

A data processing method for an estimation of compound-protein interaction using both chemical substance information, such as a chemical property of the compound, and biological information, such as sequence information of genes to rationally and efficiently screen compounds. First space representing space coordinates of a first chemical substance group and second space representing space coordinates of a second chemical substance group are defined, and the first chemical substance group is characterized by a first characteristic amount and the second chemical substance group is characterized by a second characteristic amount, and map transformation of the coordinates of the first space and the coordinates of the second space results in the solution so as to increase the correlation between the first space and the second space using a multivariable analysis technique or a machine learning method.

An ensemble predictor for characterizing uncharacterized genetic mutations is disclosed. A first set of genomic information representing a particular (e.g., harmful) mutation is obtained. The first set of genomic information is provided to a number of underlying mutation impact predictors. Predictions are obtained from the underlying predictors. The predictions predict whether the first set of genomic information represents the particular mutation. The predictions and the particular (known) mutation are provided to a logistic regression model, which provides a coefficient for each underlying predictor. A second set of (uncharacterized) genomic information is obtained. The second set of genomic information is provided to the underlying predictors. Predictions are obtained from the underlying predictors and are then weighted using the coefficients. A characterization (e.g., as harmful or not) of the second set of genomic information is provided by the ensemble predictor based on the weighted underlying predictions and may be displayed.

This invention provides for a rapid and convenient method of simultaneous collection of both genomic and diagnostic information from a single sample on a bibulous pad by differential extraction of the diagnostic information from the genomic information. It is a surprising discovery of this invention that a PCR assay on the contents of the bibulous pad provides results comparable in reliability, specificity, and sensitivity to the best available serum (blood) based assays. The assays of this invention can be used to confirm each other, either by detecting the genomic information leading to the diagnostic information, or by detecting in the genomic information, a predisposition to a disease and confirming the presence of the disease through diagnostic testing.

Various methods and systems for processing at least some of genome sequences and at least some of associated information, for an individual, may be described and disclosed herein. A purpose of such processing may be to prevent, minimize, and / or mitigate against (1) identification of the individual from such genome sequence information and / or from associated information; and / or (2) using such genome sequence information and / or associated information as a basis for discriminating against the individual. In some embodiments, such processing may comprise one or more of: segmenting genome sequences for at least a purpose of anonymizing genome information; using anchor segments for a purpose of minimizing storage space in storing of genetic sequence information; generating at least one linkage record; generating at least one anonymized linkage record; processing a request for genetic study results; processing genetic study results received; and / or generating personalized information of interest pertaining to the individual.

There is provided an integrated database system that incorporates genome information into a clinical information database contrary to conventional databases, while complying with guidelines preventing identification of a provider of the genome information, thereby enabling an easy search for a correlation between the genome information and clinical information and the like. The integrated database system includes an information database including a data storage unit for storing clinical information of a plurality of patients and genome information of at least a part of the plurality of patients. In the data storage unit, the clinical information does not include personal information that identifies the individual patients, and the genome information and the clinical information of the same patient are stored in association with each other by link information that does not identify the individual patients.

Systems and methods for performing genomic information compression, transmission, and decompression are provided. A system for compression, transmission, and decompression of genomic information includes a first computer associated with a first index and a second computer associated with a second index, each index containing reference permutations of nucleic acid sequence portions, each permutation associated with a reference number. The first computer uses input genomic information and the first index to produce a compressed representation of the genomic information, and transmits the compressed representation to the second computer. The second computer uses the compressed representation and the second index to assemble a data representation of the genomic information. The compressed representation comprises references to permutations, indications of locations of each permutation in the input information, indications of variations to permutations, and / or indications of sequence length.

A health information processing device (100) according to an embodiment comprises an accumulation unit (110), an analysis unit (121), and an estimation unit (122). The accumulation unit (110) accumulates a plurality of users' worth of health information for each user which is genomic information, and continuously collected vital sign information and activity information. The analysis unit (121) analyzes the accumulated plurality of users' worth of health information. The estimation unit (122) estimates a prescribed user's future health risk, using the result of the analysis and the prescribed user's health information.

The invention provides an aquatic animal SNP marking and selection method, which can solve the problems of low efficiency and high cost existing in the current SNP marking and selection technique. The method adopts the technical proposal comprising the following steps: firstly, genome DNA abstraction; secondly, MseI restrictive enzymes cutting, connection of connecting ends and pre-amplification; thirdly, heterozygous double chain forming, CEL I enzyme cutting and Bst DNA polymerase extending; fourthly, separation of beads containing SNP locus DNA molecule; fifthly, object DNA amplification, concentration and clone sequencing; and sixthly, SNP locus identification. The new SNP marking and selection method can efficiently, plentifully and randomly separate SNP under the condition of unknown genome information, thereby being favorable for the development and the subsequent utilization of the abundant SNP, and having significant application value and popularization prospect in aquatic animal SNP marking and selection, germplasm identification, genetic diversity evaluation, molecular breeding and the like.

The invention relates to a genome information assisted breeding method for parent selection by means of SNP clustering and PAV variation. The essence of the genome information assisted breeding method is to obtain genome sequencing information of candidate parents with the help of genomic and bioinformatics methods; on one hand, a high-quality SNP data set is obtained through sequence alignment, a genetic distance matrix of the candidate parents is calculated, and the affinity between the candidate parents is judged with the help of a clustering tree; on the other hand, a Denovo assembled candidate parent contig is positioned to a reference genome, and the PAV variation of candidate parent target trait related genes is obtained according to the physical location. By combining the PAV variation and affinity information based on SNP, a parent subset is screened out from a large number of candidate parents for phenotype identification; finally, a selected breeding parent is determined by combining the phenotype identification result of the parent subset. The genome information assisted breeding method belongs to the field of rice molecular breeding, the range of the materials for phenotype identification can be effectively narrowed from the large number of the candidate parents, the workload of phenotype identification is reduced, and the breeding work efficiency is improved.

The invention provides a disease biomarker screening analysis method, a disease biomarker screening analysis platform, a server and a disease biomarker screening analysis system, wherein the disease biomarker screening analysis method comprises the following steps of: receiving an analysis instruction, wherein the analysis instruction includes sample screening conditions and analysis program parameters; obtaining clinical information of samples to be analyzed corresponding to the sample screening conditions according to the sample screening conditions, and obtaining relevant biological information according to the clinical information of the samples to be analyzed; sending the clinical information of the samples to be analyzed, the relevant biological information and the analysis program parameters to the server so as to analyze the clinical information of the samples to be analyzed and the relevant biological information; receiving an analysis result returned by the server, and performing significance inspection on the analysis result; and if the analysis result is non-significant, resetting screening conditions, and performing analysis again until the analysis result is significant. The method provides a platform associating the clinical information with genome information for the genome research aspect, and the great-sample-size gene verification experiment is facilitated.

The present invention discloses an apparatus for detecting gene mutation, and a kit for typing the genotype of pregnant women and fetuses. The apparatus comprises a detection module, a comparison module, a target mixing genotype determination module and a mutation site screening module, wherein the different SNP loci between maternal and fetal genomic information and a reference genome can be obtained through the detection module and the comparison module, and the mixing genotype of the pseudotetraploid comprising the pregnant woman and the fetus is typed by using the target mixing genotype determination module to obtain the maternal and fetal genotypes at each SNP locus, such that all possible genetic mutations of the fetus can be detected by using only the peripheral blood sample of thepregnant woman; and with the apparatus, the separate sequencing of the sample from the father source or the mother source is not required, and all possible genetic mutations of the fetus can be detected by only using the peripheral blood sample sequencing data of the pregnant woman, such that the convenient and diversified services are provided for the fetal gene detection.

The invention discloses a screening method for an anti-tumor medicine biomarker and an application of the anti-tumor medicine biomarker. Particularly, the method comprises the following steps: (a) providing tumor cells as initial cells, wherein the tumor cells are from the same tumor tissues of the same object; (b) carrying out passage and establishment on the initial cells, and carrying out genome information detection on the obtained cell line, so as to obtain at least five tumor cell lines which are different in genome and highly homologous; (c) carrying out anti-tumor medicine sensitivity test on the tumor cell lines obtained from the step (b), and parting the tumor cell lines based on the sensitivity of the anti-tumor medicine; and (d) analyzing the genome information of the tumor cell lines based on the parting result, so as to determine the anti-tumor medicine biomarker. According to the method disclosed by the invention, the background noise between different tumor cell lines can be reduced to the maximal extent to contribute to efficient and accurate screening of the anti-tumor medicine biomarker.