Methods and processes for non-invasive assessment of genetic variations
First Claim
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1. A method for determining presence or absence of a chromosome trisomy for a test sample, comprising:
- (a) sequencing circulating cell-free nucleic acid for a test sample from a pregnant female by a massively parallel sequencing process, thereby generating sequence reads;
(b) obtaining counts of sequence reads mapped to portions of a reference genome;
(c)(i) normalizing the counts in (b), thereby generating normalized counts, and removing normalized counts associated with one or more filtered portions, thereby yielding filtered normalized counts;
or (c)(ii) removing counts associated with one or more filtered portions, and normalizing the counts in portions that were not removed, thereby yielding filtered normalized counts;
wherein the one or more filtered portions are selected according to one or more criteria chosen from measure of error, redundant data, non-informative data, portions with overrepresented sequences, portions with underrepresented sequences, and noisy data; and
(d) determining presence or absence of a chromosome trisomy for the test sample according to the filtered normalized counts.
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Abstract
Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.
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Citations
16 Claims
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1. A method for determining presence or absence of a chromosome trisomy for a test sample, comprising:
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(a) sequencing circulating cell-free nucleic acid for a test sample from a pregnant female by a massively parallel sequencing process, thereby generating sequence reads; (b) obtaining counts of sequence reads mapped to portions of a reference genome; (c)(i) normalizing the counts in (b), thereby generating normalized counts, and removing normalized counts associated with one or more filtered portions, thereby yielding filtered normalized counts;
or (c)(ii) removing counts associated with one or more filtered portions, and normalizing the counts in portions that were not removed, thereby yielding filtered normalized counts;
wherein the one or more filtered portions are selected according to one or more criteria chosen from measure of error, redundant data, non-informative data, portions with overrepresented sequences, portions with underrepresented sequences, and noisy data; and(d) determining presence or absence of a chromosome trisomy for the test sample according to the filtered normalized counts. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16)
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Specification