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1. WO2022094720 - SYSTEM AND METHOD FOR CANCER-CELL SPECIFIC TRANSCRIPTION IDENTIFICATION

Publication Number WO/2022/094720
Publication Date 12.05.2022
International Application No. PCT/CA2021/051580
International Filing Date 05.11.2021
IPC
G16B 20/20 2019.1
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
20ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
20Allele or variant detection, e.g. single nucleotide polymorphism detection
C12Q 1/6809 2018.1
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
6809Methods for determination or identification of nucleic acids involving differential detection
G01N 33/50 2006.1
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
G16B 20/00 2019.1
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
20ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
G16B 30/00 2019.1
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
Applicants
  • THE HOSPITAL FOR SICK CHILDREN [CA]/[CA]
Inventors
  • SHLIEN, Adam
  • ZATZMAN, Matthew
Agents
  • BHOLE IP LAW
Priority Data
63/110,52706.11.2020US
63/203,45823.07.2021US
Publication Language English (en)
Filing Language English (EN)
Designated States
Title
(EN) SYSTEM AND METHOD FOR CANCER-CELL SPECIFIC TRANSCRIPTION IDENTIFICATION
(FR) SYSTÈME ET PROCÉDÉ D’IDENTIFICATION DE TRANSCRIPTION SPÉCIFIQUE À DES CELLULES CANCÉREUSES
Abstract
(EN) The present invention relates a system and method for cancer-cell specific transcription identification. The method including: receiving nucleic acid data from one or more samples; determining variant allele fraction (VAF) of markers in ribonucleic acid (RNA) in the nucleic acid data and markers for deoxyribonucleic acid (DNA) in the nucleic acid data; comparing the VAF of the RNA relative to the DNA for each of the markers; and outputting the comparison as a quantification of cancer-cell specific changes in transcriptional output as a marker of prognosis or therapeutic response in cancer.
(FR) La présente invention concerne un système et un procédé d’identification de transcription spécifique à des cellules cancéreuses. Le procédé comprend les étapes consistant à : recevoir des données d’acide nucléique issues d’un ou plusieurs échantillons ; déterminer une fraction d’allèle variant (VAF) de marqueurs de l’acide ribonucléique (ARN) dans les données d’acide nucléique et de marqueurs de l’acide désoxyribonucléique (ADN) dans les données d’acide nucléique ; comparer la VAF de l’ARN à celle de l’ADN pour chacun des marqueurs ; et délivrer en sortie la comparaison sous forme de quantification des variations spécifiques à des cellules cancéreuses dans la sortie transcriptionnelle comme marqueur de pronostic ou réponse thérapeutique pour le cancer.
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