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US 2025/0157577 A1Published application
Methods and processes for non-invasive assessment of genetic variations
AssigneeSequenom, Inc.
InventorGregory HANNUM
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Abstract
Provided herein are methods, processes, systems and machines for non-invasive assessment of genetic variations. In particular, provided herein are methods, processes, systems and machines for non-invasive assessment of copy number variations. In some aspects, copy number variations include aneuploidies (e.g., trisomy 13, 18, or 21). In some aspects, copy number variations include microdeletions or microduplications.
Claims20
(canceled)
A method for reducing bias in sequence read counts for a test sample, the method comprising:
- (a) obtaining counts of nucleic acid sequence reads mapped to a reference genome, wherein the sequence reads are reads of cell-free nucleic acid from a heterogeneous test sample;
- (b) generating read densities from the mapped sequence read counts and a read density profile for the test sample from the read densities;
- and
- (c) adjusting the read density profile for the test sample by removing components of the read densities that correlate with one or more principal components from the read density profile, wherein the principal components are obtained from a training set of samples by a principal component analysis and represent one or more biases in a read density profile, thereby providing an adjusted read density profile for the test sample comprising adjusted read densities, wherein a plurality of biases is removed from the adjusted read density profile.
1 more element
Dependencies are inferred from the claim text.