Detecting mutations and ploidy in chromosomal segments

US11085087B2 · 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: Mar 20, 2019
• Grant date: Aug 10, 2021
• Expiry date: Mar 20, 2039

Classification

• Technology area (CPC —): General

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.