Abstract: Provided herein are methods and kits for measuring fragment size distribution of DNA fragments from a sample of a subject, for the purposes of cancer or tumor detection, characterization, and/or management.

Abstract: The genomic data processing systems and methods described herein can accurately detect mutations in nucleic acid (e.g., cell free DNA (cfDNA) sequence reads associated with plasma nucleic acid samples. The genomic data processing system of the present disclosure distinguishes mutations derived from a tumor from mutations derived of clonal hematopoietic (CH) origin. The origin of mutated DNA fragments can be more accurately determined by analyzing fragment sizes in cfDNA to generate tumor and CH regions of interest (ROIs) in corresponding size profiles. A mutation can be more accurately classified using a metric based on proportions of fragments in the ROIs.

Abstract: The present invention relates to a new, non-invasive method for detecting chromosomal aneuploidy by analyzing a sample from a pregnant woman. The detection is based on the ratio between the amount of a fetal methylation marker located on a chromosome relevant to the aneuploidy and the amount of a fetal genetic marker located on a reference chromosome, offering improved accuracy.

Abstract: The present invention relates to a new, non-invasive method for detecting chromosomal aneuploidy by analyzing a sample from a pregnant woman. The detection is based on the ratio between the amount of a fetal methylation marker located on a chromosome relevant to the aneuploidy and the amount of a fetal genetic marker located on a reference chromosome, offering improved accuracy.