Patents
US 12712050 B2: Chromosomal and sub-chromosomal copy number variation detection
- Granted
- 2026-08-18
- Filed
- 2022-06-30 application 17855177
- Type
- Utility · 19 claims
- Elsewhere
- Google Patents ↗ · USPTO patent document ↗ · USPTO Patent Center record ↗
Abstract
The present disclosure relates to assessment of genetic variation, and in particular to techniques for detection of chromosomal and sub-chromosomal copy number variations. In one aspect, a computer-implemented method is provided for detecting a presence or absence of copy number variation in a target sample. The method includes obtaining sequencing data for a plurality of samples, determining a first normalized coverage for each segment/element in each of the samples according to the sequencing data, determining a second normalized coverage, including a copy number, for each segment/element in each of the samples according to the first normalized coverage, classifying the copy number for each segment/element in a target set in the target sample based on rule-based approaches, machine learning based approaches, or a combination thereof, and outputting a presence or absence of a copy number variation for each segment/element in the target set in the target sample according to the classification.
Source: PTBLXML, file of 2026-08-18 (ipgb20260818.xml).
Assignees
| Assignee | Type | Place | Also on furp.org | Source |
|---|---|---|---|---|
| Laboratory Corporation of America Holdings 128 patents | US company or organization | Burlington, NC | PTBLXML, file of 2026-08-18 |
Inventors
| Inventor | Place | Patents | Person page | Source |
|---|---|---|---|---|
| Qiandong Zeng | Burlington, NC | PTBLXML, file of 2026-08-18 | ||
| Winnie Xin | Burlington, NC | PTBLXML, file of 2026-08-18 | ||
| Neil Russell | Burlington, NC | PTBLXML, file of 2026-08-18 | ||
| Chen Xu | San Diego, CA | PTBLXML, file of 2026-08-18 | ||
| Kenneth Phillips | Burlington, NC | PTBLXML, file of 2026-08-18 |
CPC categories
| Subclass | Category | First group | Source |
|---|---|---|---|
| G16B | Bioinformatics, i.e. information and communication technology [ict] specially adapted for genetic or protein-related data processing in computational molecular biology | G16B20/20 | PTBLXML, file of 2026-08-18 |
| G06N | Computing arrangements based on specific computational models | G06N5/022 | PTBLXML, file of 2026-08-18 |
Cooperative Patent Classification, as currently assigned (one row per subclass).
Assignments and security interests
| Recorded | What | From | To | Reel/frame | Source |
|---|---|---|---|---|---|
| 2024-08-09 | Assignment Assignment of assignor's interest | ZENG, QIANDONG signed 2022-08-22 XIN, WINNIE signed 2022-08-22 RUSSELL, NEIL signed 2022-08-18 XU, CHEN signed 2022-08-10 PHILLIPS, KENNETH signed 2022-08-22 | LABORATORY CORPORATION OF AMERICA HOLDINGS BURLINGTON, NC | 68240/677 | PASDL, file of 2026-08-13 |
Documents recorded with the USPTO Assignment Recordation Branch that list this patent. A security interest is a lender’s claim on the patent as collateral; a release ends it.
USPTO bulk data: PatentsView granted patents, disambiguated (PVGPATDIS) for patents, assignees, inventors, places and CPC categories; the USPTO Patent Assignment Dataset (ECORSEXC) for assignments and security interests. Patents filed in the last 20 years. No claims or full text. Links to other records are by name (and state): EXACT means the identical full name and state; FUZZY means a looser name match, with the confidence shown.