C12Q2600/118

METHOD FOR DETERMINING THE PRESENCE OR ABSENCE OF MINIMAL RESIDUAL DISEASE (MRD) IN A SUBJECT WHO HAS BEEN TREATED FOR A DISEASE

The present invention is focused on a method, kit and system for determining the presence or absence of minimal residual disease in a subject who has been treated for a proliferative disease wherein said method, kit and system comprise: (A) amplifying and sequencing at least one nucleotide sequence comprised in genomic DNA from a biological sample obtained from said subject prior to treatment for said disease, to obtain a first list of characters reading from left to right; (B) amplifying and sequencing at least one nucleotide sequence comprised in genomic DNA from a biological sample obtained from said subject after treatment for said disease, to obtain a second list of characters reading from left to right,
wherein when a nucleotide sequence is mutated it is a genetic marker for said proliferative disease; (C) determining, for each second list of characters obtained in step (B), the degree of similarity, DS, with each first list of characters obtained in step (A); (D) selecting, for each second list of characters obtained in step (B), the DS of highest value, DS.sub.HV; (E) adding up the number of second lists of characters which have a DS.sub.HV that is greater than a threshold value, T, to obtain L.sub.c, (F) adding up the total number of second lists of characters, L.sub.t; (G) calculating the level of minimal residual disease, MRD, according to any of the following formulae:


MRD=(L.sub.c×k)/(L.sub.t×D)


or


MRD=L.sub.c/L.sub.t


or


MRD=g×L.sub.c×(D/k)/L.sub.t.sup.2; (H) determining (i) the minimum variant read frequency, min VRF, of said genetic marker, (ii) the limit of detection, D-limit, of said genetic marker (iii) the average mutation noise, avMut and (iv) the average position noise, avPos; (I) determining the experimental sensitivity, ES, from the greater of the min VRF, D-limit, avMut and avPos or from the greater of min VRF and D-limit; (J) determining the presence or absence of minimal residual disease in said subject

METHOD FOR DETERMINING THE PRESENCE OR ABSENCE OF MINIMAL RESIDUAL DISEASE (MRD) IN A SUBJECT WHO HAS BEEN TREATED FOR A DISEASE

The present invention is focused on a method, kit and system for determining the presence or absence of minimal residual disease in a subject who has been treated for a proliferative disease wherein said method, kit and system comprise: (A) amplifying and sequencing at least one nucleotide sequence comprised in genomic DNA from a biological sample obtained from said subject prior to treatment for said disease, to obtain a first list of characters reading from left to right; (B) amplifying and sequencing at least one nucleotide sequence comprised in genomic DNA from a biological sample obtained from said subject after treatment for said disease, to obtain a second list of characters reading from left to right,
wherein when a nucleotide sequence is mutated it is a genetic marker for said proliferative disease; (C) determining, for each second list of characters obtained in step (B), the degree of similarity, DS, with each first list of characters obtained in step (A); (D) selecting, for each second list of characters obtained in step (B), the DS of highest value, DS.sub.HV; (E) adding up the number of second lists of characters which have a DS.sub.HV that is greater than a threshold value, T, to obtain L.sub.c, (F) adding up the total number of second lists of characters, L.sub.t; (G) calculating the level of minimal residual disease, MRD, according to any of the following formulae:


MRD=(L.sub.c×k)/(L.sub.t×D)


or


MRD=L.sub.c/L.sub.t


or


MRD=g×L.sub.c×(D/k)/L.sub.t.sup.2; (H) determining (i) the minimum variant read frequency, min VRF, of said genetic marker, (ii) the limit of detection, D-limit, of said genetic marker (iii) the average mutation noise, avMut and (iv) the average position noise, avPos; (I) determining the experimental sensitivity, ES, from the greater of the min VRF, D-limit, avMut and avPos or from the greater of min VRF and D-limit; (J) determining the presence or absence of minimal residual disease in said subject

PROSTATE CANCER DETECTION METHODS

The present invention provides methods of detecting, screening, monitoring, staging, classification, selecting treatment for, ascertaining whether treatment is working in, and/or prognostication of prostate cancer comprising determining the average methylation ratio at 10 or more genomic regions as set out in the application, and associated methods of selecting a treatment or ascertaining whether a treatment is effective. The present invention also provides a method for determining a solid cancer circulating free DNA (cfDNA) methylome signature for use in the detecting, screening, monitoring, staging, classification, selecting treatment for, ascertaining whether treatment is working in, and/or prognostication of the solid cancer in a sample obtained from a subject comprising determining the average methylation ratio at 10 or more genomic regions as set out in the application.

SALIVARY BIOMARKERS OF BRAIN INJURY
20220380850 · 2022-12-01 ·

Methods of diagnosing, monitoring, treating, and predicting the course of traumatic brain injury (TBI), including mild traumatic brain injury (mTBI), include determining a level of at least one RNA biomarker (e.g., miRNA) in a saliva sample from a subject. Also described are sensor elements, detection systems, compositions, and kits for diagnosing, monitoring, treating, and predicting the course of TBI.

Liver cancer detection kit or device, and detection method

It is intended to provide a kit or device for the detection of liver cancer and a method for detecting liver cancer. The present invention relates to a kit or device for the detection of liver cancer, comprising a nucleic acid capable of specifically binding to miRNA in a sample of a subject, and a method for detecting liver cancer, comprising measuring the miRNA in vitro.

Method to predict response to neuropsychiatric drugs using variation in the serotonin 7 receptor (HTR7) gene

Provided herein are, inter alia, methods whereby response to psychotropic drugs can be predicted, methods of treating neuropsychiatric disorders, and methods of detecting a single nucleotide polymorphism (SNP) relating to treating neuropsychiatric disorders.

Generating machine learning models using genetic data

Systems, methods, and apparatuses for generating and using machine learning models using genetic data. A set of input features for training the machine learning model can be identified and used to train the model based on training samples, e.g., for which one or more labels are known. As examples, the input features can include aligned variables (e.g., derived from sequences aligned to a population level or individual references) and/or non-aligned variables (e.g., sequence content). The features can be classified into different groups based on the underlying genetic data or intermediate values resulting from a processing of the underlying genetic data. Features can be selected from a feature space for creating a feature vector for training a model. The selection and creation of feature vectors can be performed iteratively to train many models as part of a search for optimal features and an optimal model.

PREDICTION OF PREGNANCY LOSS

The invention relates to a method for a more appropriate risk assessment for the possible occurrence of a pregnancy loss or recurrent pregnancy loss, based on the presence of different genetic variants. The invention also relates to a method for determining the risk of suffering a a pregnancy loss or RPL by combining the absence or presence several polymorphic markers in a sample from the subject with conventional risk factors as well as computer-implemented means for carrying out said method.

Oversampling in a combined transposer filter bank
11591657 · 2023-02-28 · ·

The present invention relates to coding of audio signals, and in particular to high frequency reconstruction methods including a frequency domain harmonic transposer. A system and method for generating a high frequency component of a signal from a low frequency component of the signal is described. The system comprises an analysis filter bank (501) comprising an analysis transformation unit (601) having a frequency resolution of Δf; and an analysis window (611) having a duration of D.sub.A; the analysis filter bank (501) being configured to provide a set of analysis subband signals from the low frequency component of the signal; a nonlinear processing unit (502, 650) configured to determine a set of synthesis subband signals based on a portion of the set of analysis subband signals, wherein the portion of the set of analysis subband signals is phase shifted by a transposition order T; and a synthesis filter bank (504) comprising a synthesis transformation unit (602) having a frequency resolution of QΔf; and a synthesis window (612) having a duration of D.sub.S; the synthesis filter bank (504) being configured to generate the high frequency component of the signal from the set of synthesis subband signals; wherein Q is a frequency resolution factor with Q≥1 and smaller than the transposition order T; and wherein the value of the product of the frequency resolution Δf and the duration D.sub.A of the analysis filter bank is selected based on the frequency resolution factor Q.

METHODS AND COMPOSITIONS RELATING TO AIRWAY DYSFUNCTION

Described herein are methods relating to the diagnosis, prognosis, and treatment of airway dysfunction, e.g., bronchiectasis by detecting gene expression in a sample obtained from a subject. Exemplary samples include a bronchial brushing, nasal brushing, sputum, or peripheral blood sample.