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.

Date of Patent:
Jan. 25, 2022

Filed:

Mar. 23, 2018
Applicant:

Myriad Women's Health, Inc., South San Francisco, CA (US);

Inventors:

Kevin R. Haas, Berkeley, CA (US);

Xin Wang, San Francisco, CA (US);

Peter V. Grauman, San Francisco, CA (US);

Assignee:

Myriad Genetics, Inc., Salt Lake City, UT (US);

Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
G16B 20/10 (2019.01); G16H 50/20 (2018.01); G06K 9/62 (2006.01); G16B 40/00 (2019.01); G16B 30/00 (2019.01); G16B 50/00 (2019.01); G06K 9/00 (2006.01); G16B 30/10 (2019.01); G16B 40/30 (2019.01);
U.S. Cl.
CPC ...
G16B 20/10 (2019.02); G06K 9/0055 (2013.01); G06K 9/00523 (2013.01); G06K 9/6277 (2013.01); G06K 9/6297 (2013.01); G16B 30/00 (2019.02); G16B 30/10 (2019.02); G16B 40/00 (2019.02); G16B 40/30 (2019.02); G16B 50/00 (2019.02); G16H 50/20 (2018.01); G06K 2209/07 (2013.01);
Abstract

Direct targeted sequencing (DTS) methods and a hidden Markov model (HMM) can be used to call the copy number of a segment of interest within a region of interest. Described herein are methods for calling a copy number variant or a copy number variant abnormality using an HMM, and methods for determining a copy number based on a copy number likelihood model, in a test sequencing library that has be sequenced using DTS methods. Also described herein are methods for determining a copy number of a segment, including accounting for spurious capture probes that may arise from the DTS methods.


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