AU2019328344B2 - Microsatellite instability detection in cell-free DNA - Google Patents

Microsatellite instability detection in cell-free DNA Download PDF

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AU2019328344B2
AU2019328344B2 AU2019328344A AU2019328344A AU2019328344B2 AU 2019328344 B2 AU2019328344 B2 AU 2019328344B2 AU 2019328344 A AU2019328344 A AU 2019328344A AU 2019328344 A AU2019328344 A AU 2019328344A AU 2019328344 B2 AU2019328344 B2 AU 2019328344B2
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microsatellite
sample
msi
nucleic acid
loci
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AU2019328344A1 (en
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Aliaksandr ARTSIOMENKA
Catalin Barbacioru
Darya CHUDOVA
Martina I. LEFTEROVA
Marcin Sikora
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Guardant Health Inc
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Guardant Health Inc
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    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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

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  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Medical Informatics (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Data Mining & Analysis (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Epidemiology (AREA)
  • Artificial Intelligence (AREA)
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  • Evolutionary Computation (AREA)
  • Databases & Information Systems (AREA)
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  • Microbiology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
AU2019328344A 2018-08-31 2019-08-30 Microsatellite instability detection in cell-free DNA Active AU2019328344B2 (en)

Priority Applications (1)

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AU2025226669A AU2025226669A1 (en) 2018-08-31 2025-09-02 Microsatellite instability detection in cell-free DNA

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US201862726182P 2018-08-31 2018-08-31
US62/726,182 2018-08-31
US201962823578P 2019-03-25 2019-03-25
US62/823,578 2019-03-25
US201962857048P 2019-06-04 2019-06-04
US62/857,048 2019-06-04
PCT/US2019/048999 WO2020047378A1 (en) 2018-08-31 2019-08-30 Microsatellite instability detection in cell-free dna

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AU2025226669A Division AU2025226669A1 (en) 2018-08-31 2025-09-02 Microsatellite instability detection in cell-free DNA

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AU2019328344A1 AU2019328344A1 (en) 2021-04-08
AU2019328344B2 true AU2019328344B2 (en) 2025-06-12

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AU2025226669A Pending AU2025226669A1 (en) 2018-08-31 2025-09-02 Microsatellite instability detection in cell-free DNA

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US (7) US11773451B2 (https=)
EP (1) EP3844761A1 (https=)
JP (2) JP7539367B2 (https=)
KR (1) KR20210052511A (https=)
CN (2) CN121354685A (https=)
AU (2) AU2019328344B2 (https=)
CA (1) CA3109539A1 (https=)
SG (1) SG11202101400UA (https=)
WO (1) WO2020047378A1 (https=)

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WO2022124575A1 (ko) * 2020-12-07 2022-06-16 (주)디엑솜 현미부수체 지역의 서열 길이의 변동계수를 이용한 현미부수체 불안정성 진단방법
CN117412765A (zh) * 2021-01-29 2024-01-16 国立卫生研究所 诊断msi癌症的方法
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KR102688594B1 (ko) * 2021-08-10 2024-07-24 (주)디엑솜 현미부수체 지역의 서열 길이의 변화율을 이용한 현미부수체 불안정성 진단방법
KR102781271B1 (ko) * 2021-08-10 2025-03-17 (주)디엑솜 현미부수체 지역의 서열 길이의 최대값과 최소값의 차이를 이용한 현미부수체 불안정성 진단방법
CN113744251B (zh) * 2021-09-07 2023-08-29 上海桐树生物科技有限公司 基于自注意力机制从病理图片预测微卫星不稳定性的方法
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CN114972163B (zh) * 2022-03-15 2025-02-18 常州桐树生物科技有限公司 基于图卷积神经网络识别微卫星不稳定性状态的方法
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CN117809744A (zh) * 2023-04-21 2024-04-02 苏州吉因加生物医学工程有限公司 一种筛选msi特征位点的方法、装置和存储介质
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
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JP2024084802A (ja) 2024-06-25
US20210363586A1 (en) 2021-11-25
US20250283181A1 (en) 2025-09-11
US20240247319A1 (en) 2024-07-25
US20250388975A1 (en) 2025-12-25
WO2020047378A1 (en) 2020-03-05
CN112930569A (zh) 2021-06-08
US20230416843A1 (en) 2023-12-28
CN112930569B (zh) 2025-10-03
CN121354685A (zh) 2026-01-16
JP2021535489A (ja) 2021-12-16
US20260055472A1 (en) 2026-02-26
US20250384954A1 (en) 2025-12-18
JP7539367B2 (ja) 2024-08-23
US11773451B2 (en) 2023-10-03
JP7699261B2 (ja) 2025-06-26
AU2019328344A1 (en) 2021-04-08
KR20210052511A (ko) 2021-05-10
CA3109539A1 (en) 2020-03-05
AU2025226669A1 (en) 2025-09-18
US12344902B2 (en) 2025-07-01
EP3844761A1 (en) 2021-07-07
SG11202101400UA (en) 2021-03-30

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