TW202317774A - 分類同源修復缺陷之系統及方法 - Google Patents

分類同源修復缺陷之系統及方法 Download PDF

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TW202317774A
TW202317774A TW111123648A TW111123648A TW202317774A TW 202317774 A TW202317774 A TW 202317774A TW 111123648 A TW111123648 A TW 111123648A TW 111123648 A TW111123648 A TW 111123648A TW 202317774 A TW202317774 A TW 202317774A
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hrd
features
feature
tumor
positive
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TW111123648A
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伊森 索科爾
傑 摩爾
賈斯汀 紐伯格
戴斯特 金
陳奎廷
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美商方得生醫療公司
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    • 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
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N20/00—Machine learning
    • G06N20/20—Ensemble learning
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/08—Learning methods
    • G06N3/09—Supervised learning
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N5/00—Computing arrangements using knowledge-based models
    • G06N5/01—Dynamic search techniques; Heuristics; Dynamic trees; Branch-and-bound
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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TW111123648A 2021-06-25 2022-06-24 分類同源修復缺陷之系統及方法 TW202317774A (zh)

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US202163215281P 2021-06-25 2021-06-25
US63/215,281 2021-06-25

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TW202317774A true TW202317774A (zh) 2023-05-01

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US (1) US20230140123A1 (enExample)
EP (1) EP4360094A4 (enExample)
JP (1) JP2024528489A (enExample)
CN (1) CN117561572A (enExample)
AU (1) AU2022299105A1 (enExample)
TW (1) TW202317774A (enExample)
WO (1) WO2022272310A1 (enExample)

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Publication number Priority date Publication date Assignee Title
US20260080973A1 (en) * 2022-08-30 2026-03-19 Foundation Medicine, Inc. Systems and methods for classifying and treating homologous repair deficiency cancers
WO2024077041A2 (en) * 2022-10-05 2024-04-11 Foundation Medicine, Inc. Methods and systems for identifying copy number signatures
CN116451070B (zh) * 2023-03-17 2025-12-19 南京康尼机电股份有限公司 基于多分辨率窗口的轨道车门系统异常判别方法及系统
AU2024264089A1 (en) * 2023-04-28 2025-10-02 Institut Curie Methods for diagnosing a homologous recombination deficiency in human tumors
CN116312781B (zh) * 2023-05-17 2023-08-18 普瑞基准科技（北京）有限公司 一种基于机器学习的基因组不稳定性评估方法及系统
CN117011615B (zh) * 2023-09-15 2025-12-19 湖南自兴智慧医疗科技有限公司 基于生成式模型数据增广的微核血细胞识别系统
WO2025217185A1 (en) * 2024-04-09 2025-10-16 Foundation Medicine, Inc. Parp inhibitors for the treatment of advanced prostate cancer

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AU2014248007B2 (en) * 2013-04-05 2020-03-26 Myriad Genetics, Inc. Methods and materials for assessing homologous recombination deficiency
US11348661B2 (en) * 2018-05-14 2022-05-31 Tempus Labs, Inc. Predicting total nucleic acid yield and dissection boundaries for histology slides
US10975445B2 (en) * 2019-02-12 2021-04-13 Tempus Labs, Inc. Integrated machine-learning framework to estimate homologous recombination deficiency
ES2989374T3 (es) * 2019-12-10 2024-11-26 Tempus Ai Inc Sistemas y procedimientos para predecir el estado de deficiencia de recombinación homóloga de una muestra

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AU2022299105A1 (en) 2024-01-04
EP4360094A4 (en) 2025-04-23
CN117561572A (zh) 2024-02-13
EP4360094A1 (en) 2024-05-01
JP2024528489A (ja) 2024-07-30
US20230140123A1 (en) 2023-05-04
WO2022272310A1 (en) 2022-12-29

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