Methods for copy number determination
US11339435B2 · kind B2 · utility
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10Claims
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Assignee
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Key dates
| Filing date | Oct 17, 2014 |
| Grant date | May 24, 2022 |
| Priority date | — |
| Expiry date | Sep 12, 2035 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
The invention generally relates to a method for determining carrier or disease status with respect to a particular disease or condition. In certain embodiments, methods of the invention involve obtaining a sample including nucleic acid from a subject. The nucleic acid includes a genomic locus that is diagnostic for an autosomal recessive disease. The nucleic acid is captured and isolated from the sample and further sequenced. The method further includes analyzing sequence reads to determine a copy number of the captured nucleic acid and further determine a disease status based upon the copy number.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.