Detecting genetic aberrations associated with cancer using genomic sequencing

US10619214B2 · kind B2 · utility

Assignee

• The Chinese University of Hong Kong · CN

Inventors

• Yuk-Ming Dennis Lo · Kowloon, CN
• Rossa Wai Kwun Chiu · Sha Tin, CN
• Kwan Chee Chan · Sha Tin, CN

Key dates

• Filing date: Mar 30, 2017
• Grant date: Apr 14, 2020
• Expiry date: Mar 30, 2037

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

Methods, systems, and apparatus determine whether a first chromosomal region exhibits a deletion or an amplification associated with cancer in a sample from a subject (e.g., where the sample includes a mixture of cell-free DNA from tumor cells and non-malignant cells. Nucleic acid molecules of the biological sample are sequenced. Respective amounts of a clinically-relevant chromosomal region and of background chromosomal region(s) are determined from 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 first chromosomal region exhibits a deletion or an amplification associated with cancer.