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3159results about "Proteomics" patented technology

System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data

The information management system disclosed enables caregivers to make better decisions, faster, using aggregated genetic and phenotypic data. The system enables the integration, validation and analysis of genetic, phenotypic and clinical data from multiple subjects who may be at distributed facilities. A standardized data model stores a range of patient data in standardized data classes that encompass patient profile information, patient symptomatic information, patient treatment information, and patient diagnostic information including genetic information. Data from other systems is converted into the format of the standardized data classes using a data parser, or cartridge, specifically tailored to the source system. Relationships exist between standardized data classes that are based on expert rules and statistical models. The relationships are used both to validate new data, and to predict phenotypic outcomes based on available data. The prediction may relate to a clinical outcome in response to a proposed intervention by a caregiver. The statistical models may be inhaled into the system from electronic publications that define statistical models and methods for training those models, according to a standardized template. Methods are described for selecting, creating and training the statistical models to operate on genetic, phenotypic and clinical data, in particular for underdetermined data sets that are typical of genetic information. The disclosure also describes how security of the data is maintained by means of a robust security architecture, and robust user authentication such as biometric authentication, combined with application-level and data-level access privileges.
Owner:NATERA

System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals

ActiveUS20070184467A1Significant resultMicrobiological testing/measurementProteomicsUniparental disomyEmbryo
A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell is reconstructed using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In accordance with another embodiment of the invention, incomplete genetic data from a fetus is acquired from fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In one embodiment, the genetic data can be reconstructed for the purposes of making phenotypic predictions. In another embodiment, the genetic data can be used to detect for aneuploides and uniparental disomy.
Owner:NATERA

System and method for cleaning noisy genetic data and determining chromosome copy number

Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.
Owner:NATERA

Systems and methods for obtaining, storing, processing and utilizing immunologic information of individuals and populations

A system and method for obtaining, storing, processing and utilizing immunologic information of individuals and populations is presented. In exemplary embodiments of the present invention, a biological sample can be taken from one or more individuals and the sample submitted to one or more panels of assays. The results of the assays can be stored and analyzed, and such analysis can include (i) calculating derived quantities which take the results of the assays as inputs, and (ii) submitting the results and the derived quantities to a set of rules, each of which has a defined output state. In exemplary embodiments of the present invention, based upon the output state of the rules, an appropriate recommendation as to one or more immunization or other interventions can be generated and incorporated with provider and patient reminders. In exemplary embodiments of the present invention the results of the assays and the recommendation, as well as additional information specific to the individual can be stored for further analysis. In exemplary embodiments of the present invention the assay panel or panels can be chosen as a function of a defined demographic group or enterprise affinity into which the individual corresponds. In exemplary embodiments a database can be maintained for storing and further processing of all immunologic informatics collected according to the methods of the present invention, and can be further processed or used to optimize the delivery of products and/or services in various commercial, research and governmental contexts.
Owner:WELLSTAT VACCINES

Systems and methods to detect copy number variation

In one aspect, a system for implementing a copy number variation analysis method, is disclosed. The system can include a nucleic acid sequencer and a computing device in communications with the nucleic acid sequencer. The nucleic acid sequencer can be configured to interrogate a sample to produce a nucleic acid sequence data file containing a plurality of nucleic acid sequence reads. In various embodiments, the computing device can be a workstation, mainframe computer, personal computer, mobile device, etc.
The computing device can comprise a sequencing mapping engine, a coverage normalization engine, a segmentation engine and a copy number variation identification engine. The sequence mapping engine can be configured to align the plurality of nucleic acid sequence reads to a reference sequence, wherein the aligned nucleic acid sequence reads merge to form a plurality of chromosomal regions. The coverage normalization engine can be configured to divide each chromosomal region into one or more non-overlapping window regions, determine nucleic acid sequence read coverage for each window region and normalize the nucleic acid sequence read coverage determined for each window region to correct for bias. The segmentation engine can be configured to convert the normalized nucleic acid sequence read coverage for each window region to discrete copy number states. The copy number variation identification engine can be configured to identify copy number variation in the chromosomal regions by utilizing the copy number states of each window region.
Owner:LIFE TECH CORP
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