Diagnosis of fetal chromosomal aneuploidy using genome sequencing

摘要

Embodiments of this invention provide methods, systems and apparatus for determining whether a cancer exists from a biological sample. Nucleic acid molecules of the biological sample are randomly sequenced and respective amounts of a clinically relevant chromosome and background chromosomes are determined from the results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a cancer exists.