Abstract: The present invention provides processes for calculating phased genomic sequences of the fetal genome using fetal DNA obtained from a maternal sample. The processes and systems of the present invention utilize novel technological and computational approaches to detect fetal genomic sequences and determine the phased heritable genomic sequences. The invention could be used, e.g., to identify in utero deleterious mutations carried by the parents and inherited by a fetus within a particular heritable genomic region.
Type:
Grant
Filed:
May 13, 2019
Date of Patent:
August 2, 2022
Assignee:
Roche Molecular Systems, Inc.
Inventors:
John Stuelpnagel, Craig Struble, Eric Wang
Abstract: A system (100) for classifying a biological test sample, including a database (112) populated with reference expression data. The reference expression data includes expression levels of a plurality of molecules (polynucleotides or polypeptides), including a set of marker molecules, in a plurality of reference samples. Each reference sample has a pre-assigned value for each of one or more clinically significant variables. The system includes at least one processor (110) and at least one storage medium containing program instructions for execution by said processor (110). The program instructions cause the processor to accept (122) input expression data including a test vector of expression levels of the marker molecules in the biological test sample; and pass the input expression data to one or more analysis programs (130a, 130b, 135).
Abstract: A handheld diagnostic test device includes a port to removably receive a test cartridge, an element connected with an electronic device, and sensors for detection of test data from a biological or environment sample after reaction with reagents onboard the cartridge. The test device also includes memory storing algorithms for upload to the electronic device to enable a processor thereof: to await elapse of a pre-determined time following reaction of the sample with the reagents; to thereafter instruct the sensors to detect the test data; to generate presentation data based on the test data; and to present the presentation data from a presentation element of the electronic device to a user. A related method includes a connecting step, an uploading step, a presentation step, a cartridge inserting step, a waiting step, a sensing step, and an electronic device processing step.
Type:
Grant
Filed:
September 15, 2017
Date of Patent:
July 12, 2022
Assignee:
FIO Corporation
Inventors:
Qing Xiang, Jill Lindsey Osborne, Ryan Davey, Francois Dupoteau
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: Techniques are provided for replacing image assays using real world data and real word evidence RNA-seq analysis for assessing biologic pathways for identifying molecular subtypes. Systems of a methods diagnose HER2 status for a patient, by identifying discordant HER2 status result between the HER2 status from immunohistochemistry (IHC) and the HER2 status from fluorescence in-situ hybridization (FISH) and diagnosing HER2 status based gene expression data.
Type:
Grant
Filed:
December 14, 2020
Date of Patent:
June 21, 2022
Assignee:
TEMPUS LABS, INC.
Inventors:
Louis Fernandes, Caroline Epstein, Joshua S K Bell, Nike Tsiapera Beaubier, Gary Palmer
Abstract: The invention is directed to a method and system to rapidly provide a clinical reportable result for the presence of a target nucleic acid sequence in a sample. The inventive subject matter includes: a method to conduct a rapid assay to provide a clinically reportable result for the presence of a target nucleic acid sequence in a sample. A clinically reportable results is one that is automatically validated. Here the testing and quality control steps are automated to avoid delay caused by human review and validation of each assay.
Abstract: The present disclosure provides methods and reagents for the diagnosis, prognosis or the monitoring of breast cancer, including various subtypes of breast cancer including, for example, estrogen receptor (ER) negative breast cancer, ER positive breast cancer, triple negative breast cancer (TNBC) and other subtypes of breast cancer.
Type:
Grant
Filed:
September 15, 2015
Date of Patent:
June 7, 2022
Assignee:
Garvan Institute of Medical Research
Inventors:
Susan Clark, Elena Zotenko, Clare Stirzaker, Glenn Francis
Abstract: A method is provided for treating erectile dysfunction in a subject in need thereof by administering a cGMP-specific phosphodiesterase 5 (PDE5) inhibitor pharmaceutical composition to a subject qualified for over-the-counter access to the PDE5 inhibitor pharmaceutical composition. In some embodiments, the PDE5 inhibitor pharmaceutical composition includes tadalafil or vardenafil.
Abstract: The present disclosure provides methods for determining a probability that after any of a number of therapeutic interventions, an initial state of a subject, such as somatic cell mutational status of a subject with cancer, will develop a subsequent state. Such probabilities can be used to inform a health care provider as to particular courses of treatment to maximize probability of a desired outcome for the subject.
Abstract: Systems and methods for rapidly analyzing cell containing samples, for example to identify morphology or to localize and quantitate biomarkers are disclosed.
Abstract: 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, are disclosed. 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 is acquired from embryonic cells, 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.
Type:
Grant
Filed:
February 28, 2019
Date of Patent:
April 19, 2022
Assignee:
Natera, Inc.
Inventors:
Matthew Rabinowitz, Milena Banjevic, Zachary Demko, David Johnson
Abstract: A system for evaluating a DNA sample and determining whether the sample contains related individuals and/or unrelated individuals with high levels of alleles sharing. Trained and pre-validated machine learning algorithms are to rapidly and probabilistically assess the presence of relatives in a DNA mixture. To make a probabilistic determination, the system evaluates aspect of the sample that have not be considered before, such as peak heights, peak height ratios, maximum peak heights, minimum peak heights, ratios of allele heights to one another, number of contributors using maximum allele count method, and quantitative measures of the amount of DNA contributed by the male and female organisms. The system identifies whether a DNA sample has contributors that are not readily identifiable based on the data and can thus improve downstream analysis.
Abstract: A method for designing a primer supplied to a PCR reaction includes a primer designing step of defining a 5?-end-side base sequence of the primer so as to include a base sequence or its complementary base sequence, the base sequence enabling identification of, among thermal cycles in the PCR reaction, a synthesis cycle of a DNA molecule in an amplification product obtained by the PCR reaction performed with the primer, the identification being based on base-sequence data obtained by sequencing the amplification product.
Abstract: The present disclosure relates to a method for calculating or estimating at least one medical value based on several input values using artificial intelligence.
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 present disclosure provides methods for determining a probability that after any of a number of therapeutic interventions, an initial state of a subject, such as somatic cell mutational status of a subject with cancer, will develop a subsequent state. Such probabilities can be used to inform a health care provider as to particular courses of treatment to maximize probability of a desired outcome for the subject.
Abstract: Methods for targeting a tumor antigen for immunotherapy based on HLA allele type and the mutations present in the tumor antigen are presented. A patient's HLA allele type and a tumor antigen derived from a mutation in cancer driver gene can be matched with a majority allele type having a minimum affinity to the same tumor antigen or with those of a plurality of patients with a history of cancer treatment. Upon matching, a cancer treatment against the tumor antigen can be selected and administered to the patient to achieve a desired effect.
Type:
Grant
Filed:
November 30, 2017
Date of Patent:
March 15, 2022
Assignees:
Nantomics, LLC, Nant Holdings IP, LLC
Inventors:
Andrew Nguyen, John Zachary Sanborn, Charles Joseph Vaske, Shahrooz Rabizadeh, Kayvan Niazi, Patrick Soon-Shiong, Stephen Charles Benz
Abstract: Methods and systems for monitoring and determining antimicrobial resistance and antimicrobial treatment using genomic subtype information. Various embodiments utilize molecular epidemiology and next-generation sequencing technologies (NGS) to monitor multi-drug resistant pathogens and provide early insight into emergent microbial threats.
Type:
Grant
Filed:
March 10, 2016
Date of Patent:
March 1, 2022
Assignee:
KONINKLIJKE PHILIPS N.V.
Inventors:
Sitharthan Kamalakaran, Pramod Mayigowda, Henry Lin, Sonia Chothani
Abstract: Modular, miniaturized cardiovascular sensors, systems, methods, and wearable devices for the non-obtrusive evaluation, monitoring, and high-fidelity mapping of cardiac mechanical and electromechanical forces and central arterial blood pressure are presented herein. The sensor manufacturing process is also presented. Using accelerometers, the sensors register body-surface (preferably torso-surface) movements and vibrations generated by cardiac forces. The sensors may contain single-use or reusable components, which may be exchanged to fit different body sizes, shapes, and anatomical locations; they may be incorporated into clothing, bands, straps, and other wearable arrangements. The invention presents a practical, noninvasive solution for electromechanical mapping of the heart, which is useful for a wide range of healthcare applications, including the remote monitoring of heart failure status and the guidance of cardiac resynchronization therapy.
Abstract: A method for nucleic acid sequencing includes receiving a plurality of signals indicative of a parameter measured for a plurality of defined spaces, at least some of the defined spaces including one or more sample nucleic acids, the signals being responsive to a plurality of nucleotide flows introducing nucleotides to the defined spaces; determining, for at least some of the defined spaces, whether the defined space includes a sample nucleic acid; processing, for at least some of the defined spaces determined to include a sample nucleic acid, the received signals to improve a quality of the received signals; and predicting a plurality of nucleotide sequences corresponding to respective sample nucleic acids for the defined spaces based on the processed signals and the nucleotide flows.
Type:
Grant
Filed:
February 11, 2019
Date of Patent:
February 22, 2022
Assignee:
Life Technologies Corporation
Inventors:
Melville Davey, Simon Cawley, Alan Williams