Systems and methods for identifying structural variants
US12046330B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jul 21, 2020 |
| Grant date | Jul 23, 2024 |
| Priority date | — |
| Expiry date | Dec 8, 2042 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B25/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Systems and methods for analyzing first and second strings against a ground truth string are provided. A construct representing a plurality of components is obtained, each component for a different portion of the truth string. The construct comprises a plurality of measurement string sampling pools each having an identifier and a corresponding plurality of measurement samplings corresponding to one or two of the components. Each sampling has the identifier and a portion of the first or second string. Samplings are assigned to first, second or third classes when coding a portion of the first string, second string, or both the first and second string. First and second positions are tested for sequence events by calculating a plurality of sequence event models using assumptions on the components having samplings encompassing the first and second positions and class assignments. These assumptions are updated using the calculated models and the models are recalculated.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.