METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS

摘要

The present invention relates to a computer-implemented method for detecting the presence or absence of a segmental chromosomal aberration or a fetal aneuploidy or both comprising: (a) obtaining sequence reads of circulating, cell-free sample nucleic acid from a test subject; (b) mapping the sequence reads obtained in (a) to a known genome, which known genome has been divided into genomic sections; (c) counting the mapped sequence reads within the genomic sections; (d) removing counts associated with one or more filtered genomic sections, wherein the one or more filtered genomic sections are selected according to one or more criteria chosen from measure of error, genomic sections with redundant mapped sequence reads, genomic sections with uninformative data, genomic sections with overrepresented sequences, genomic sections with underrepresented sequences, and noisy data; (e) generating a sample normalized count profile by normalizing the counts for the genomic sections; and (f) determining the presence or absence of a segmental chromosomal aberration or a fetal aneuploidy or both from the sample normalized count profile in (e).