Chromosome representation determinations
US-2015347676-A1 · Dec 3, 2015 · US
US9367663B2 · US · B2
| Field | Value |
|---|---|
| Publication number | US-9367663-B2 |
| Application number | US-201213669136-A |
| Country | US |
| Kind code | B2 |
| Filing date | Nov 5, 2012 |
| Priority date | Oct 6, 2011 |
| Publication date | Jun 14, 2016 |
| Grant date | Jun 14, 2016 |
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Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.
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What is claimed is: 1. A method for determining presence or absence of a chromosome trisomy for a test sample, comprising: (a) obtaining counts of sequence reads mapped to portions of a reference genome, which sequence reads are of circulating cell-free nucleic acid from a test sample from a pregnant female; (b) determining a guanine and cytosine (GC) bias coefficient for the test sample based on a fitted relation between (i) the counts of the sequence reads mapped to each of th…
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