Using cell-free DNA fragment size to determine copy number variations
US10095831B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Dec 16, 2016 |
| Grant date | Oct 9, 2018 |
| Priority date | — |
| Expiry date | Dec 16, 2036 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16H20/10
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Disclosed are methods for determining copy number variation (CNV) known or suspected to be associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs known or suspected to be associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter. In some implementations, information from fragments of different sizes are used to evaluate copy number variations. In some implementations, one or more t-statistics obtained from coverage information of the sequence of interest is used to evaluate copy number variations. In some implementations, one or more fetal fraction estimates are combined with one or more t-statistics to determine copy number variations.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.