WO2023196928A3 - True variant identification via multianalyte and multisample correlation - Google Patents
True variant identification via multianalyte and multisample correlation Download PDFInfo
- 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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- WO
- WIPO (PCT)
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- true variant
- variant
- true
- multianalyte
- multisample
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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
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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
- 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
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- General Health & Medical Sciences (AREA)
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- Proteomics, Peptides & Aminoacids (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Epidemiology (AREA)
- Evolutionary Computation (AREA)
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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.
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)
| Publication Number | Publication Date |
|---|---|
| WO2023196928A2 WO2023196928A2 (en) | 2023-10-12 |
| WO2023196928A3 true WO2023196928A3 (en) | 2023-12-07 |
Family
ID=88243691
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PCT/US2023/065473 Ceased WO2023196928A2 (en) | 2022-04-06 | 2023-04-06 | True variant identification via multianalyte and multisample correlation |
Country Status (1)
| Country | Link |
|---|---|
| WO (1) | WO2023196928A2 (en) |
Families Citing this family (1)
| 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)
| 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 |
-
2023
- 2023-04-06 WO PCT/US2023/065473 patent/WO2023196928A2/en not_active Ceased
Patent Citations (2)
| 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 |
Also Published As
| Publication number | Publication date |
|---|---|
| WO2023196928A2 (en) | 2023-10-12 |
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