Abstract: Disclosed are techniques for characterizing variants of interest and predicting assignments of individuals to communities based on obtained genetic information. To characterize a variant, DNA datasets of reference individuals are accessed and used to generate a cluster with additional individuals. Reference individuals carry a variant at a genetic locus and the additional individuals share IBD with reference individuals. Statistics of genealogical data of the cluster are generated. A result summarizing the characterization of the variant is generated based on the statistics. To determine if an individual belongs to a community, a subset of the individual's haplotypes are inputted into a community-specific model. The model is trained using the training samples that each include haplotypes of reference individuals and a label identifying whether the reference individual belongs to the community. Based on the output of the model, it is determined whether the individual is a member of the community.

Abstract: The present technology encompasses systems for predicting a characteristic of an individual subject, as well as methods for predicting a characteristic of a particular subject based on the systems of the technology disclosed herein. The disclosure herein also provides methods to improve a characteristics in a subject, based on the prediction produced by the system.

Abstract: A system and method are for analyzing fluorescence of fluorophors in an eye using a non-negative matrix factorization (NMF) method. The NMF method may be initialized with Gaussian mixture model fits and may optionally be constrained to provide identical abundance images for data obtained in response to two or more excitation wavelengths.

Abstract: An exemplary embodiment of system, method and computer-accessible medium can be provided to reconstruct models based on the probabilistic notion of causation, which can differ fundamentally from that can be based on correlation. A general reconstruction setting can be complicated by the presence of noise in the data, owing to the intrinsic variability of biological processes as well as experimental or measurement errors. To gain immunity to noise in the reconstruction performance, it is possible to use a shrinkage estimator. On synthetic data, the exemplary procedure can outperform currently known procedures and, for some real cancer datasets, there are biologically significant differences revealed by the exemplary reconstructed progressions. The exemplary system, method and computer accessible medium can be efficient even with a relatively low number of samples and its performance quickly converges to its asymptote as the number of samples increases.

Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

Abstract: Embodiments of the invention include systems and methods for capturing crowd wisdom to be tested for individualized treatment plans. These systems and methods include data mining crowd sourced health related information and unstructured medical narratives and storytelling to identify treatment plans and general techniques that individuals with chronic diseases/symptoms, including but not limited to IBD and other immune invisible neglected and stigmatized diseases, use to improve their general health and wellbeing. A system for testing the treatments effectiveness in a population and then in an individual is also disclosed.

Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

Abstract: Accurate measurements of the presence or absence of a target cell in a sample are provided. For example, the sample can be mixed with a plurality of transduction particles capable of binding to the target cells, the transduction particles being engineered to include a nucleic acid molecule formulated to cause the target cells to produce a plurality of detectable reporter molecules once the particles bind to and deliver the nucleic acid molecules into the one or more target cells. A set of signal data points are received that are associated with a quantity of reporter molecules and the signal data points are analyzed to accurately detect target cells in the sample. Systems and methods are disclosed.

Abstract: Software for calculating an astigmatism treatment is operable upon execution to perform the following steps: receiving biometric information for a patient; determining based on the biometric information an astigmatic correction comprising at least one of (a) a position for one or more limbal relaxing incisions and (b) a power and an orientation for a toric intraocular lens (IOL); generating an output comprising the astigmatic correction; receiving a selection of a different ratio of astigmatic correction attributable to the one or more limbal relaxing incisions and the toric IOL; determining an updated astigmatic correction including at least one of (a) an updated position for the one or more limbal relaxing incisions and (b) an updated power and/or orientation of the toric IOL.

Abstract: Methods, systems, and apparatus determine whether a first chromosomal region exhibits a deletion or an amplification associated with cancer in a sample from a subject (e.g., where the sample includes a mixture of cell-free DNA from tumor cells and non-malignant cells. Nucleic acid molecules of the biological sample are sequenced. Respective amounts of a clinically-relevant chromosomal region and of background chromosomal region(s) are determined from results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether first chromosomal region exhibits a deletion or an amplification associated with cancer.

Abstract: A medical device for providing information for glycemic control is provided, wherein the device comprises storage means arranged to store data, receiving means arranged to receive blood glucose value data and security data, data processing means arranged to execute a first processing function for modifying data retrieved from the storage means and to execute a second processing function for providing information for glycemic control based on the blood glucose value data and data retrieved from the storage means, validating means arranged to validate the received security data and to provide validation data corresponding to the validation of the received security data, and safety means arranged to control an execution of at least a predetermined function out of the first and second processing functions based on the validation data.

Abstract: The invention provides compositions and methods for treating cardiac dysfunction, particularly cachexia-associated or RAGE-associated cardiac dysfunction, using an anti-RAGE agent. The invention also provides compositions and methods for identifying therapeutic agents useful for disrupting (slowing, reducing, reversing, or preventing). The methods comprise designing or identifying agents that bind to functional sites identified on the RAGE polypeptide, wherein binding of agents to the functional site(s) inhibit RAGE-mediated cachetogenic signaling.

Abstract: The invention provides genetic markers of severe suicidal behavior, related compositions, computer systems, and methods.

Abstract: Systems and methods for generating a surgical plan for altering an abnormal bone using a generic normal bone model are discussed. For example, a system for planning a surgery on an abnormal bone can include a model receiver module configured to receive a generic normal bone model. The generic normal bone model, such as a parametric model derived from statistical shape data, can include a data set representing a normal bone having an anatomical origin comparable to the abnormal bone. An input interface can be configured to receive an abnormal bone representation including a data set representing the abnormal bone. A surgical planning module can include a registration module configured to register the generic normal bone model to the abnormal bone representation by creating a registered generic model. A surgical plan formation module can be configured to identify one or more abnormal regions of the abnormal bone using the registered generic model.

Abstract: A method for designing all coverage of valid primer pairs, which satisfy various filtering constraints provided by users with respect to a given sequence database and has validated specificity to given sequences, is provided. By screening all suitable primer pairs present on a given DNA sequence database without omitting any one primer pair and also screening all primers having a coverage of 1 or more as well as primers having a coverage of 1, a user can be allowed to give rankings to the primers in order to easily select the primers having a high success rate in biological experiments from the resulting primers.

Abstract: The invention provides methods and materials related to a gene expression-based survival predictor for DLBCL patients.

Abstract: The present invention refers to a medical device (100) comprising: •a measurement unit (110) adapted to measure a value of a physiological parameter, for example a blood glucose level, •a data storage (130) adapted to store ?a plurality of measurement values of the physiological parameter, ?for each measurement value an associated event tag, ?for each measurement value an associated time stamp, ?for each at least one predefined event an associated current time range for tagging preselection, •a processor (140) adapted to ?receive from the measurement unit (110) or from the data storage (130) a new measurement value with an associated time, ?comparing the associated time stamp of the new measurement value with the stored at least one time range for tagging preselection, ?if the time stamp is within one current time range for tagging preselection the corresponding tag of the predefined event is preselected and initiated for user confirmation, ?in case one particular predefined tag of one particular predefined e

Abstract: Method and apparatus for electronic detection and determination includes detecting a signal T0 in a detection zone and a signal R0 in a reference zone before a sample is added; adding a sample and detecting the signals in each of the detection zone and the reference zone at an interval of a second preset period; calculating a judgement value based on 2k immediately previous signals in each of the detection zone and the reference zone, the signal T0 in the detection zone before the sample is added, and the signal R0 in the reference zone before the sample is added, each time when k successive signals are detected in each of the detection zone and the reference zone; and determining a judgement result based on m successive judgement values and a preset result threshold corresponding to a current detection time.

Abstract: An apparatus for detecting an object capable of emitting light. The apparatus comprises a light detector comprising at least two optical sensors capable of determining the intensity of the light; and a computer processing output signal generated by the optical sensors and comparing a result of the processing with a known result corresponding to a known type to determine whether the object belongs to the known type.