WO2021030193A1 - Système et procédé de classification de données génomiques - Google Patents
Système et procédé de classification de données génomiques Download PDFInfo
- Publication number
- WO2021030193A1 WO2021030193A1 PCT/US2020/045421 US2020045421W WO2021030193A1 WO 2021030193 A1 WO2021030193 A1 WO 2021030193A1 US 2020045421 W US2020045421 W US 2020045421W WO 2021030193 A1 WO2021030193 A1 WO 2021030193A1
- Authority
- WO
- WIPO (PCT)
- Prior art keywords
- data
- model
- biological
- dataspace
- models
- Prior art date
Links
Classifications
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B15/00—ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
Abstract
L'invention concerne un système et un procédé de prédiction de l'origine d'un échantillon de tissu néoplasique d'un patient pour aider au traitement du patient en informant précisément un professionnel médical de l'origine du tissu de telle sorte qu'un traitement approprié peut être proposé au patient. Le procédé comprend généralement la préparation d'un profil de données biologiques de l'échantillon de tissu néoplasique et la comparaison de celui-ci avec des modèles dans un modèle d'espace de données de modèle pour déterminer le meilleur ajustement d'un modèle avec le profil de données biologiques.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201962885996P | 2019-08-13 | 2019-08-13 | |
US62/885,996 | 2019-08-13 |
Publications (1)
Publication Number | Publication Date |
---|---|
WO2021030193A1 true WO2021030193A1 (fr) | 2021-02-18 |
Family
ID=74569802
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
PCT/US2020/045421 WO2021030193A1 (fr) | 2019-08-13 | 2020-08-07 | Système et procédé de classification de données génomiques |
Country Status (1)
Country | Link |
---|---|
WO (1) | WO2021030193A1 (fr) |
Cited By (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN116386043A (zh) * | 2023-03-27 | 2023-07-04 | 北京市神经外科研究所 | 一种脑神经医疗影像胶质瘤区域快速标记方法及系统 |
Citations (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20170051281A1 (en) * | 2014-02-19 | 2017-02-23 | The Trustees Of Columbia University In The City Of New York | Method and composition for diagnosis or treatment of aggressive prostate cancer |
WO2019018374A1 (fr) * | 2017-07-17 | 2019-01-24 | University Of Pittsburgh-Of The Commonwealth System Of Higher Education | Test de diagnostic et de pronostic pour de multiples types de cancer sur la base d'un profilage de transcrits |
US10340031B2 (en) * | 2017-06-13 | 2019-07-02 | Bostongene Corporation | Systems and methods for identifying cancer treatments from normalized biomarker scores |
-
2020
- 2020-08-07 WO PCT/US2020/045421 patent/WO2021030193A1/fr active Application Filing
Patent Citations (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20170051281A1 (en) * | 2014-02-19 | 2017-02-23 | The Trustees Of Columbia University In The City Of New York | Method and composition for diagnosis or treatment of aggressive prostate cancer |
US10340031B2 (en) * | 2017-06-13 | 2019-07-02 | Bostongene Corporation | Systems and methods for identifying cancer treatments from normalized biomarker scores |
WO2019018374A1 (fr) * | 2017-07-17 | 2019-01-24 | University Of Pittsburgh-Of The Commonwealth System Of Higher Education | Test de diagnostic et de pronostic pour de multiples types de cancer sur la base d'un profilage de transcrits |
Non-Patent Citations (2)
Title |
---|
JOAO C. GUIMARAES, MIHAELA ZAVOLAN: "Patterns of ribosomal protein expression specify normal and malignant human cells", GENOME BIOLOGY, vol. 17, no. 1, 1 December 2016 (2016-12-01), XP055566778, DOI: 10.1186/s13059-016-1104-z * |
RAM AJORE, DAVID RAISER, MARIE MCCONKEY, MAGNUS JÖUD, BERND BOIDOL, BRENTON MAR, GORDON SAKSENA, DAVID M WEINSTOCK, SCOTT ARMSTRON: "Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations", EMBO MOLECULAR MEDICINE (ONLINE), WILEY - V C H VERLAG GMBH & CO. KGAA, DE, vol. 9, no. 4, 1 April 2017 (2017-04-01), DE, pages 498 - 507, XP055566779, ISSN: 1757-4684, DOI: 10.15252/emmm.201606660 * |
Cited By (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN116386043A (zh) * | 2023-03-27 | 2023-07-04 | 北京市神经外科研究所 | 一种脑神经医疗影像胶质瘤区域快速标记方法及系统 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
US10975445B2 (en) | Integrated machine-learning framework to estimate homologous recombination deficiency | |
US20200258597A1 (en) | Detection of human leukocyte antigen loss of heterozygosity | |
US11164655B2 (en) | Systems and methods for predicting homologous recombination deficiency status of a specimen | |
WO2020077232A1 (fr) | Procédés et systèmes pour détection et analyse des variants d'acides nucléiques | |
WO2021022225A1 (fr) | Procédés et systèmes de détection d'instabilité de microsatellites d'un cancer dans un dosage de biopsie liquide | |
US20210327534A1 (en) | Cancer classification using patch convolutional neural networks | |
US20220215900A1 (en) | Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics | |
AU2019417836A1 (en) | Transcriptome deconvolution of metastatic tissue samples | |
WO2016073953A1 (fr) | Prédiction de résultats cliniques | |
JP7041614B2 (ja) | 生体データにおけるパターン認識のマルチレベルアーキテクチャ | |
US20210398617A1 (en) | Molecular response and progression detection from circulating cell free dna | |
US11475978B2 (en) | Detection of human leukocyte antigen loss of heterozygosity | |
WO2019118622A1 (fr) | Détection de délétions et de variations de nombre de copies dans des séquences d'adn | |
WO2022072537A1 (fr) | Systèmes et procédés d'utilisation d'un réseau neuronal convolutionnel pour détecter une contamination | |
WO2021030193A1 (fr) | Système et procédé de classification de données génomiques | |
De Riso et al. | Artificial intelligence for epigenetics: towards personalized medicine | |
WO2020185411A1 (fr) | Système et procédé d'appel de variant | |
US20240076744A1 (en) | METHODS AND SYSTEMS FOR mRNA BOUNDARY ANALYSIS IN NEXT GENERATION SEQUENCING | |
Javed | Differential Expression Analysis of RNA-Seq Data and Co-expression Networks | |
Puri et al. | Breast Cancer Prognosis and Prediction through Gene Expression Analysis and the Hybrid Model of SVM and Logistic Regression | |
Diaz-Herrera | Methods to Integrate Genetic and Clinical Data for Disease Subtyping | |
Malick et al. | Bioinformatics Analysis of Differentially Expressed Gene's in Breast Cancer Using DESeq2 | |
Abuelqumsan | Assessment of supervised classification methods for the analysis of RNA-seq data | |
WO2023009863A1 (fr) | Détection de variants génétiques dans les gènes de l'antigène leucocytaire humain | |
WO2024089714A1 (fr) | Cadre stratégique analytique multimodal et multi-omique pour priorisation de prescription de précision |
Legal Events
Date | Code | Title | Description |
---|---|---|---|
121 | Ep: the epo has been informed by wipo that ep was designated in this application |
Ref document number: 20853000 Country of ref document: EP Kind code of ref document: A1 |
|
NENP | Non-entry into the national phase |
Ref country code: DE |
|
122 | Ep: pct application non-entry in european phase |
Ref document number: 20853000 Country of ref document: EP Kind code of ref document: A1 |