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.
Abstract:
Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations. In particular the invention relates to methods and kits for detecting aneuploidy of a fetal chromosome by determining the amounts of differentially methylated regions in each of chromosomes 13, 18 and 21 in circulating cell-free nucleic acid from a human pregnant female.
Abstract:
Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations. Also provided herein are methods, processes and apparatuses for determining fetal fraction in a cell-free a sample from a pregnant subject. Also provided herein are methods, processes and apparatuses for determining fetal fraction in a cell-free a sample from a pregnant subject based on a maternal copy number variation. Also provided herein are methods, processes and apparatuses for determining fetal fraction in a cell-free a sample from a pregnant subject based on a maternal microduplication or microdeletion.
Abstract:
Provided are methods for identifying the presence or absence of a chromosome abnormality by which a cell-free sample nucleic acid from a subject is analyzed. In certain embodiments, provided are methods for identifying the presence or absence of a fetal chromosome abnormality in a nucleic acid from cell-free maternal blood.