Abstract: Disclosed are techniques for predicting a trait of an individual and identifying a set of enriched record collections of a genetic community. To predict a trait of an individual, DNA features and non-DNA features of the individual are accessed to generate a feature vector that is inputted into a machine learning model. The machine learning model generates a prediction of the trait. The prediction may be based on an inheritance prediction and/or a community prediction. To identify a set of enriched record collections, individuals belonging to a genetic community are identified and a set of candidate record collections are accessed. A community count and a background count is determined for each candidate record collection. The set of enriched record collections are identified based on a comparison of the community count and the background count. The genetic community may be annotated using the set of enriched record collections.

Abstract: The present invention relates to differentiating signals of interest for target nucleic acid sequences. The present invention permits to obtain an individual signal value (i.e., variable) contained in a total signal detected at detection temperatures by using mathematical equations. The present invention based on equation-solving approach enables to obtain the individual signal value in a systematical manner, thereby providing analysis results in much more accurate and convenient manner.

Abstract: The invention provides methods for comparing one set of genetic sequences to another without discarding any information within either set. A set of genetic sequences is represented using a directed acyclic graph (DAG) avoiding any unwarranted reduction to a linear data structure. The invention provides a way to align one sequence DAG to another to produce an alignment that can itself be stored as a DAG. DAG-to-DAG alignment is a natural choice wherever a set of genomic information consisting of more than one string needs to be compared to any non-linear reference. For example, a subpopulation DAG could be compared to a population DAG in order to compare the genetic features of that subpopulation to those of the population.

Abstract: A method for implementing an adapted patient care for an individual suffering from liver fibrosis after assessing liver fibrosis progression in the individual, and thus determining whether the individual is a slow, medium or fast fibroser. Also, a method for treating an individual suffering from liver fibrosis and identified as a fast fibroser, which includes the steps of identifying the individual as a fast fibroser by assessing fibrosis progression and treating the individual by administering without delay at least one therapeutic agent for treating liver fibrosis, or for treating the underlying cause responsible for liver fibrosis, or both.

Abstract: Methods and systems for analyzing genetic variants are disclosed.

Abstract: A system, method and apparatus for executing a sequence analysis pipeline on genetic sequence data includes a integrated circuit formed of a set of hardwired digital logic circuits that are interconnected by physical electrical interconnects. One of the physical electrical interconnects forms an input to the integrated circuit connected with an electronic data source for receiving reads of genomic data. The hardwired digital logic circuits are arranged as a set of processing engines, each processing engine being formed of a subset of the hardwired digital logic circuits to perform one or more steps in the sequence analysis pipeline on the reads of genomic data. Each subset of the hardwired digital logic circuits is formed in a wired configuration to perform the one or more steps in the sequence analysis pipeline.

Abstract: Disclosed is a method for aligning images of high-density signals of a dPCR chip with high precision and accuracy, which assigns each signal spot on an dPCR image to a unified grid. More specifically, the invention provides methods for adjusting the coordinates of signal spots in an image, and aligning the adjusted image to the unified grid by aligning to features of a fiducial marker built in the chip.

Abstract: Provided are methods and apparatus for receiving sensor data from an analyte sensor of a sensor monitoring system, processing the received sensor data with time corresponding calibration data, outputting the processed sensor data, detecting one or more adverse conditions associated with the sensor monitoring system, disabling the output of the sensor data during the adverse condition time period, determining that the one or more detected adverse conditions is no longer present in the sensor monitoring system, retrieving the sensor data during the adverse condition time period, processing the retrieved sensor data during the adverse condition time period, and outputting the processed retrieved sensor data.

Abstract: The invention relates to methods and systems for high-throughput toxicity screening of compounds using Mahalanobis Values, and in particular comparing a normal unexposed transcriptome Mahalanobis Value in an in-vitro hepatocyte microassay against a calculated transcriptome Mahalanobis Value of hepatocytes exposed to a target compound for varying time periods and in varying concentrations.

Abstract: A method for rapid, high throughput screening of the activities of enzymes, especially ligninases and its enzyme cocktails, using nanostructure initiator mass spectrometry (NIMS) surfaces, substrates and methodology.

Abstract: A method and system for managing a risk of medication dependence that determines a conservative estimate of the time when the patient will become dependent on a medication as a function of a medication log. The medication log includes dose information and time information for a plurality of administrations of the medication.

Abstract: A method of identifying a gene associated with a disease or pathological condition of the disease includes: a) obtaining a first group of exome sequences from a first population suffering from the disease or pathological condition and a second group of exome sequences from a second population not having the disease or pathological condition; b) identifying one or more variants in the first group by comparing it with the second group, and optionally with a public database, to generate a first set of variant data; c) applying a variant quality score calibration tool with a truth sensitivity threshold to remove false-positive variants having a sensitivity lower than the threshold and background variants from the first set of variant data so as to obtain a second set of variant data; d) removing synonymous variants from the second set of variant data to obtain a third set of variant data; and e) identifying one or more deleterious variants from the third set of variant data using a gene burden analysis, optionall

Abstract: A system includes a bacteria culture array that includes a plurality of chambers each configured to receive a portion of a sample that includes bacteria. Each individual chamber of the plurality of chambers includes a chamber opening configured to permit access of the portion of the sample to the individual chamber. The system also includes one or more sensors configured to collect data from the individual chamber. The sensors are configured to contact the sample. Additionally, the system includes a monitoring and analysis system that includes a processor configured to receive the data from the one or more sensors at a first time and a second time, compare the data received at the second time to the data received at the first time, and identify a portion of the plurality of chambers of the bacteria culture array based on the comparing.

Abstract: Embodiments disclosed herein relate to methods, devices, and computer systems thereof for automated data collection from a subject. In certain embodiments, one or more characteristics of a subject are sensed, and the subject is given a queue status indicator based on a comparison of the subject's one or more sensed characteristics with corresponding sensed characteristics from other subjects. In one embodiment, the subject is a healthcare worker and the system, methods, and devices are utilized to evaluate the overall health of the worker as part of the check-in process for work.

Abstract: The present invention provides, among other things, methods and compositions for determining enzyme kinetic parameters (e.g., Vmax, Km, and specific activity, etc.) indicative of clinically relevant properties of glucocerebrosidase using a physiologically relevant substrate, in particular, a substrate that is representative of substrates that typically accumulate in patients suffering from Gaucher disease such as glucosylceramide. Thus, the present invention is particularly useful to measure a kinetic parameter relating to the activity of glucocerebrosidase in a drug substance, drug product, and stability sample for enzyme replacement therapy.

Abstract: The present invention is directed to development of a device which makes it possible to precisely and easily measure, evaluate, and quantify dynamic properties of an alimentary bolus by simulating swallowing of a wide variety of types of food products, and also directed to a method to estimate mouthfeel from the dynamic properties by use of the device.

Abstract: A system and method for predicting, proposing and/or evaluating suitable medication dosing regimens for a specific individual as a function of individual-specific characteristics and observed responses of the specific individual. Mathematical models of observed patient responses are used in determining an initial dose. The system and method use the patient's observed response to the initial dose to refine the model for use to forecast expected responses to proposed dosing regimens more accurately for a specific patient.

Abstract: To provide a technology that allows for simple and highly accurate evaluation of the condition of blood. Provided is a blood condition analysis device, for analyzing the condition of a blood sample having added thereto at least one kind of drug selected from the group consisting of anticoagulation treatment cancelling agents, coagulation activators, anticoagulants, platelet activators, and antiplatelet agents, the device including a drug dosage control unit for controlling the dosage of the drug to be added to the blood sample on the basis of the hematocrit and/or hemoglobin content of the blood sample.

Abstract: The present invention provides an analyzer for predicting a prognosis of cancer radiotherapy, including a detection device and an arithmetic device. In a specimen, expression levels of a plurality of microRNAs (miRNAs) can be detected by the detection device. The miRNAs includes hsa-miR-130a-3p, hsa-miR-215-5p, hsa-miR-29a-3p, hsa-let-7b-5p, hsa-miR-19b-3p, hsa-miR-374a-5p and hsa-miR-148a-3p. The expression levels of miRNAs can be analyzed by the arithmetic device using logistic regression, and the analyzed values can be used to determine that the prognosis of cancer radiotherapy is poor or good.

Abstract: Systems, methods and/or devices for optimizing a patient's insulin dosage regimen over time, comprising at least a first memory for storing data inputs corresponding at least to one or more components in a patient's present insulin dosage regimen, and data inputs corresponding at least to the patient's blood-glucose-level measurements determined at a plurality of times, and a processor operatively connected to the at least first memory. The processor is programmed at least to determine from the data inputs corresponding to the patient's blood-glucose-level measurements determined at a plurality of times whether and by how much to vary at least one of the one or more components in the patient's present insulin dosage regimen.