Detecting cancer mutations and aneuploidy in chromosomal segments

US10262755B2 · kind B2 · utility

Assignee

• Natera, Inc. · US

Inventors

• Joshua Babiarz · Castro Valley, US
• Tudor Pompiliu Constantin · Berkeley, US
• Lane A. Eubank · Redwood City, US
• George Gemelos · Walnut, US
• Matthew Hill · Belmont, US
• Huseyin Eser Kirkizlar · Los Angeles, US
• Matthew Rabinowitz · San Francisco, US
• Onur Sakarya · Redwood City, US
• Styrmir Sigurjonsson · San Jose, US
• Bernhard Zimmermann · Manteca, US

Key dates

• Filing date: Oct 14, 2015
• Grant date: Apr 16, 2019
• Expiry date: Feb 25, 2037

Classification

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

Abstract

The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.