WO2023196928A3 - True variant identification via multianalyte and multisample correlation - Google Patents

True variant identification via multianalyte and multisample correlation Download PDF

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Publication number
WO2023196928A3
WO2023196928A3 PCT/US2023/065473 US2023065473W WO2023196928A3 WO 2023196928 A3 WO2023196928 A3 WO 2023196928A3 US 2023065473 W US2023065473 W US 2023065473W WO 2023196928 A3 WO2023196928 A3 WO 2023196928A3
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WIPO (PCT)
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true variant
variant
true
multianalyte
multisample
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Ceased
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PCT/US2023/065473
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French (fr)
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WO2023196928A2 (en
Inventor
Adam SCIAMBI
Charles Joseph Murphy
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Mission Bio Inc
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Mission Bio Inc
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Publication of WO2023196928A3 publication Critical patent/WO2023196928A3/en
Anticipated expiration legal-status Critical
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    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Theoretical Computer Science (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Artificial Intelligence (AREA)
  • Analytical Chemistry (AREA)
  • Bioethics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

Described herein are true variant identification methods via multianalyte and multisample correlations. Generally, the first step of true variant identification involves applying a first machine learned model to identify one or more correlations of a candidate variant with other analytes or variants within the same or different cells or samples. The second step of true variant identification involves applying a second machine learned model to classify a variant to be a true variant or false positive based on the identified correlations. Such improved true variant identification methods facilitate the identification of signatures of measurable residual diseases at a more granular and accurate level.
PCT/US2023/065473 2022-04-06 2023-04-06 True variant identification via multianalyte and multisample correlation Ceased WO2023196928A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202263327966P 2022-04-06 2022-04-06
US63/327,966 2022-04-06

Publications (2)

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WO2023196928A2 WO2023196928A2 (en) 2023-10-12
WO2023196928A3 true WO2023196928A3 (en) 2023-12-07

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PCT/US2023/065473 Ceased WO2023196928A2 (en) 2022-04-06 2023-04-06 True variant identification via multianalyte and multisample correlation

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Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN117423382B (en) * 2023-10-21 2024-05-10 云准医药科技(广州)有限公司 Single-cell barcode identity recognition method based on SNP polymorphism

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20200017917A1 (en) * 2017-03-03 2020-01-16 Yale University Mapping a Functional Cancer Genome Atlas of Tumor Suppressors Using AAV-CRISPR Mediated Direct In Vivo Screening
WO2021067721A1 (en) * 2019-10-02 2021-04-08 Mission Bio, Inc. Improved variant caller using single-cell analysis

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20200017917A1 (en) * 2017-03-03 2020-01-16 Yale University Mapping a Functional Cancer Genome Atlas of Tumor Suppressors Using AAV-CRISPR Mediated Direct In Vivo Screening
WO2021067721A1 (en) * 2019-10-02 2021-04-08 Mission Bio, Inc. Improved variant caller using single-cell analysis

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