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The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Patent No.:

US 12486542 B1

PDFFull Text
Date of Patent:
Dec. 02, 2025

Filed:

Jun. 04, 2024

Detecting mutations and ploidy in chromosomal segments

Applicant:

Natera, Inc., San Carlos, CA (US);

Inventors:

Joshua Babiarz, Castro Valley, CA (US);

Tudor Pompiliu Constantin, Berkeley, CA (US);

Lane A. Eubank, San Carlos, CA (US);

George Gemelos, Portland, OR (US);

Matthew Micah Hill, Belmont, CA (US);

Huseyin Eser Kirkizlar, Los Angeles, CA (US);

Matthew Rabinowitz, San Francisco, CA (US);

Onur Sakarya, Redwood City, CA (US);

Styrmir Sigurjonsson, San Jose, CA (US);

Bernhard Zimmermann, Manteca, CA (US);

Assignee:

Natera, Inc., San Carlos, CA (US);

Attorney:
Primary Examiner:

Larry D Riggs, Ii

Assistant Examiner:

Ghazal undefined Sabour

Int. Cl.
CPC ...
C12Q 1/6886 (2018.01); C12Q 1/6869 (2018.01); G06N 7/01 (2023.01); G06N 20/00 (2019.01); G16B 15/00 (2019.01); G16B 20/00 (2019.01); G16B 20/10 (2019.01); G16B 20/20 (2019.01); G16B 25/00 (2019.01); G16B 25/20 (2019.01); G16B 40/00 (2019.01); G16B 40/20 (2019.01); G16H 10/40 (2018.01); G16H 50/20 (2018.01); G16Z 99/00 (2019.01);
U.S. Cl.
CPC ...
C12Q 1/6886 (2013.01); C12Q 1/6869 (2013.01); G06N 7/01 (2023.01); G06N 20/00 (2019.01); G16B 15/00 (2019.02); G16B 20/00 (2019.02); G16B 20/10 (2019.02); G16B 20/20 (2019.02); G16B 25/00 (2019.02); G16B 40/00 (2019.02); G16B 40/20 (2019.02); G16H 10/40 (2018.01); G16H 50/20 (2018.01); G16Z 99/00 (2019.02); C12Q 2539/10 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01); C12Q 2600/16 (2013.01); C12Q 2600/172 (2013.01); G16B 25/20 (2019.02);
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.

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