Processing

Please wait...

Settings

Settings

Goto Application

1. WO2020094775 - ENHANCED DETECTION OF TARGET DNA BY FRAGMENT SIZE ANALYSIS

Publication Number WO/2020/094775
Publication Date 14.05.2020
International Application No. PCT/EP2019/080506
International Filing Date 07.11.2019
IPC
G16B 30/00 2019.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
30ICT specially adapted for sequence analysis involving nucleotides or amino acids
C12Q 1/68 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
G16B 40/00 2019.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
40ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
G16H 50/70 2018.01
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
50ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
70for mining of medical data, e.g. analysing previous cases of other patients
Applicants
  • CANCER RESEARCH TECHNOLOGY LIMITED [GB]/[GB]
Inventors
  • MOULIERE, Florent
  • CHANDRANANDA, Dineika
  • PISKORZ, Anna
  • BRENTON, James
  • ROSENFELD, Nitzan
Agents
  • MEWBURN ELLIS LLP
Priority Data
1818159.407.11.2018GB
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) ENHANCED DETECTION OF TARGET DNA BY FRAGMENT SIZE ANALYSIS
(FR) DÉTECTION AMÉLIORÉE D'ADN CIBLE PAR ANALYSE DE TAILLE DE FRAGMENT
Abstract
(EN)
The present invention provides a computer-implemented method for detecting variant nucleic acid from a cell-free nucleic acid- containing sample. The method comprises (a) providing data representing fragment sizes of nucleic acid fragments obtained from said sample and/or representing a measure of deviation from copy number neutrality of the nucleic acid fragments obtained from said sample; b) processing the data from step a) according to a classification algorithm, wherein said classification algorithm operates to classify sample data into one of at least a first class containing the variant nucleic acid and a second class not containing the variant nucleic acid, based on a plurality of cell- free nucleic acid fragment size features and/or a deviation from copy number neutrality feature; and c) outputting the classification of the sample from step b, thereby determining whether the sample contains the variant nucleic acid or not, or a probability that the sample contains the variant nucleic acid. Related methods are also provided.
(FR)
La présente invention concerne un procédé mis en œuvre par ordinateur pour détecter un variant d'acide nucléique à partir d'un échantillon contenant un acide nucléique acellulaire. Le procédé consiste à (a) fournir des données représentant des tailles de fragment de fragments d'acide nucléique obtenus à partir dudit échantillon et/ou représentant une mesure de l'écart par rapport à la neutralité du nombre de copies des fragments d'acide nucléique obtenus à partir dudit échantillon ; à b) traiter les données provenant de l'étape a) selon un algorithme de classification, ledit algorithme de classification fonctionnant pour classifier des données d'échantillon dans l'une d'au moins une première classe contenant le variant d'acide nucléique et d'une seconde classe ne contenant pas le variant d'acide nucléique, sur la base d'une pluralité de caractéristiques de taille de fragment d'acide nucléique acellulaire et/ou d'un écart par rapport à une caractéristique de neutralité du nombre de copies ; et à c) délivrer la classification de l'échantillon provenant de l'étape b), permettant ainsi de déterminer si l'échantillon contient ou non le variant d'acide nucléique, ou une probabilité que l'échantillon contienne le variant d'acide nucléique. La présente invention concerne également des procédés associés.
Latest bibliographic data on file with the International Bureau