Abstract: A method of operation of a medical device system for determining prospective heart failure hospitalization risk. The method includes measuring one or more data observations via one or more electrodes of an implanted medical device disposed in a patient's body. The data observations are stored into memory of the implantable medical device of a patient. The data observations are transmitted to an external device. The processor of the external device parses the data observations into one or more evaluation periods. Using the number of observations in one or more evaluation periods, a look up table, stored into memory of the external device, is accessed. The look up table associates prospective heart failure hospitalization risk with the data observations noted in the evaluation period. One or more embodiments involve a weighted prospective heart failure hospitalization risk for the set of evaluation periods. The prospective heart failure hospitalization is then displayed on the graphical user interface.

Abstract: Systems, methods, and apparatuses are provided for diagnosing auto-immune diseases such as systemic lupus erythematosus (SLE) based on the sizes, methylation levels, and/or genomic characteristics of circulating DNA molecules. Patients provide blood or other tissue samples containing cell-free nucleic molecules for analysis. Massively parallel and/or methylation-aware sequencing can be used to determine the sizes and methylation levels of individual DNA molecules and identify the number of molecules originating from different genomic regions.

Abstract: Improved methods and systems for diagnosing and for treating Cushing's syndrome and Cushing's Disease are provided herein, including methods and systems for concurrently treating Cushing's syndrome and differentially diagnosing Cushing's Disease from Ectopic Cushing's Syndrome in a patient with an established diagnosis of ACTH-dependent Cushing's syndrome. Treatment methods can use glucocorticoid receptor antagonists (GRAs), which differentially affect the ratio of cortisol to ACTH levels in patients having Cushing's Disease versus patients having Ectopic Cushing's Syndrome.

Abstract: Methods, apparatuses, and system are provided for analyzing a maternal sample to determine whether a male fetus of a pregnant female has inherited an X-linked mutation from the mother. A percentage of fetal DNA in the sample is obtained, and cutoff values for the two possibilities (fetus inherits mutant or normal allele) are determined. A proportion of mutant alleles relative to a normal allele on the X-chromosome can then be compared to the cutoff values to make a classification of which allele is inherited. Alternatively, a number of alleles from a target region on the X-chromosome can be compared to a number of alleles from a reference region on the X-chromosome to identify a deletion or amplification. The fetal DNA percentage can be computed by counting reactions with a fetal-specific allele, and correcting the number to account for a statistical distribution among the reactions.

Abstract: The present invention provides assay systems and methods for determining the percent fetal contribution of cell-free DNA in a maternal sample from a pregnant female with an egg donor pregnancy. Further provided, are assay systems and methods for determining a statistical likelihood of the presence or absence of a fetal aneuploidy in a maternal sample using a determined percent fetal cell-free DNA in the sample.

Abstract: In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.

Abstract: Methods and apparatus for providing data processing and control for use in a medical communication system are provided.

Abstract: Techniques are provided for determining inheritance of maternal and paternal haplotypes in preganncies with multiple fetuses. Maternal inheritance can be determined at loci where the mother is heterozygous and the paternally inherited alleles are known (e.g., the father is homozygous). Two types of loci may be used, where one type has the paternal allele appear on a first maternal haplotype, and another type has the paternal allele appear on a second maternal haplotype. Paternal inheritance can be determined from loci where the father is heterozygous and the maother is homozygous. Amounts of different alleles at each locus can be measured. A comparison of the amounts (e.g., using a fractional concentration of each allele and cutoffs) can be used to determine the haplotype inheritance. A haplotype can be linked to a condition of interest.

Abstract: Disclosed herein are methods, compositions and kits for quantitating one or more specific nucleic acids within a plurality of nucleic acids. In some embodiments, a sequencing library is constructed from enriched probe extension products specific for the specific nucleic acids and sequenced. In some embodiments, the resulting reads are used for removing duplicate reads. In some embodiments, counting of verified probes is used to quantitate or determine the number of specific nucleic acid molecules in the starting nucleic acid sample.

Abstract: A fitness tracking device configured to be worn by a user obtains a plurality of physical characteristics of the user including a first age and a sex of the user. The fitness tracking device maps each physical characteristic of the user to a corresponding index, wherein the first age of the user is mapped to a first age index of a first age range of a plurality of age ranges, and wherein the sex of the user is mapped to a first sex index. The fitness tracking device selects, from a memory of the fitness tracking device, a first calorimetry model of a plurality of calorimetry models, wherein the first calorimetry model is associated with each corresponding index, including the first age index and the first sex index of the user. The fitness tracking device estimates an energy expenditure rate using the first calorimetry model.

Abstract: The disclosure relates to the use of one or more association rule mining algorithms to mine data sets containing features created from at least one plant or animal-based molecular genetic marker, find association rules and utilize features created from these association rules for classification or prediction.

Abstract: Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.

Abstract: Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs known or suspected to be associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter. In some implementations, information from fragments of different sizes are used to evaluate copy number variations. In some implementations, one or more t-statistics obtained from coverage information of the sequence of interest is used to evaluate copy number variations. In some implementations, one or more fetal fraction estimates are combined with one or more t-statistics to determine copy number variations.

Abstract: Methods and devices to detect analyte in body fluid are provided. Embodiments include processing sampled data from analyte sensor, determining a single, fixed, normal sensitivity value associated with the analyte sensor, estimating a windowed offset value associated with the analyte sensor for each available sampled data cluster, computing a time varying offset based on the estimated windowed offset value, and applying the time varying offset and the determined normal sensitivity value to the processed sampled data to estimate an analyte level for the sensor.

Abstract: A method and system for simulating cardiac function of a patient. A patient-specific anatomical model of at least a portion of the patient's heart is generated from medical image data. Cardiac electrophysiology potentials are calculated over a computational domain defined by the patient-specific anatomical model for each of a plurality of time steps using a patient-specific cardiac electrophysiology model. The electrophysiology potentials acting on a plurality of nodes of the computational domain are calculated in parallel for each time step. Biomechanical forces are calculated over the computational domain for each of the plurality of time steps using a cardiac biomechanical model coupled to the cardiac electrophysiology model. The biomechanical forces acting on a plurality of nodes of the computational domain are estimated in parallel for each time step. Blood flow and cardiac movement are computed at each of the plurality of time steps based on the calculated biomechanical forces.

Abstract: A technique for sequencing nucleic acids in an automated or semi-automated manner is disclosed. Sample arrays of a multitude of nucleic acid sites are processed in multiple cycles to add nucleotides to the material to be sequenced, detect the nucleotides added to sites, and to de-block the added nucleotides of blocking agents and tags used to identify the last added nucleotide. Multiple parameters of the system are monitored to enable diagnosis and correction of problems as they occur during sequencing of the samples. Quality control routines are run during sequencing to determine quality of samples, and quality of the data collected.

Abstract: A mirror system includes a visual display disposed to convey information and images during an active period; and the visual display disposed to provide a reflected image during an inactive period; a multi-spectral 3D camera including a high definition video camera and an infrared camera; and a processor coupled to the visual display and the multi-spectral 3D camera.

Abstract: A computer-implemented method for processing and/or analyzing nucleic acid sequencing data comprises receiving a first data input and a second data input. The first data input comprises untargeted sequencing data generated from a first nucleic acid sample obtained from a subject. The second data input comprises target-specific sequencing data generated from a second nucleic acid sample obtained from the subject. Next, with the aid of a computer processor, the first data input and the second data input are combined to produce a combined data set. Next, an output derived from the combined data set is generated. The output is indicative of the presence or absence of one or more polymorphisms of the first nucleic acid sample and/or the second nucleic acid sample.

Abstract: A screening method evaluates influence of a cytotoxic factor on lymphoid cells. The method includes administering or irradiating lymphoid cells with the cytotoxic factor that injures the lymphoid cells; incubating the lymphoid cells to which the cytotoxic factor is administered or irradiated for a selected time; measuring a cell size of the lymphoid cells after the incubation; and determining influence of the cytotoxic factor on the lymphoid cells based on a change of the cell size. According to this method, influence of radiation or a drug, or efficacy of radiation, a radiation-protecting agent, an antioxidant, a radiation-sensitizing agent, a drug, or ultraviolet rays can be evaluated economically and objectively in a short period of time.

Abstract: A method of screening biologically active agent based on the analysis of complex biological responses in culture. Methods for selecting cells and culture conditions for such screens are provided, as well as the identification of an optimized set of discrete parameters to be measured, and the use of biomap analysis for rapid identification and characterization of drug candidates, genetic sequences acting pathways, and the like. A feature of the invention is simultaneous screening of a large number of cellular pathways, and the rapid identification of compounds that cause cellular responses.