Methods and processes for non-invasive assessment of a genetic variation
AssigneeSequenom, Inc.
InventorsLin TANG, Cosmin DECIU
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Abstract
Provided in part herein are methods and processes that can be used for non-invasive assessment of a genetic variation which can lead to diagnosis of a particular medical condition or conditions. Such methods and processes can, for example, identify dissimiliarities or similarities for one or more features between a subject data set and a reference data set, generate a multidimensional matrix, reduce the matrix into a representation and classify the representation into one or more groups. Methods and processes described herein are applicable to data in biotechnology and other fields.
Claims16
A method for non-invasive assessment of fetal fraction estimation comprising:
- (a) receiving a subject data set comprising genomic nucleic acid sequence information of a test sample from a pregnant female subject;
- (b) receiving a reference data set comprising genomic nucleic acid sequence information of a biological specimen from one or more reference persons;
- (c) classifying into one or more groups the subject data set for a feature by one or more linear modeling analysis algorithms based on the reference data set thereby providing a classification;
- and
- (d) estimating fetal fraction for the test sample based on the classification.
Dependencies are inferred from the claim text.