Detection of cancer-related genetic or molecular abnormalities

摘要

Progress of chromosomal aberrations in an organism is determined using biological samples including nucleic acid molecules originating from normal cells and potentially from cells associated with a disease, at least some of the nucleic acid molecules being cell-free. Non-overlapping chromosomal regions of a reference genome of the organism are determined. At a plurality of times: for each of plural nucleic acid molecules, a location thereof in the reference genome is determined; and for each chromosomal region: a respective group of nucleic acid molecules is identified as being therefrom based on the identified locations; a respective value defining a property of the nucleic acid molecules is calculated and compared to a reference value to determine a classification of whether the chromosomal region exhibits a deletion or an amplification. The classifications at the plurality of times are used to determine the progress of the chromosomal aberrations in the organism.