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:
Oct. 29, 2024

Filed:

Oct. 17, 2018
Applicants:

The Broad Institute, Inc., Cambridge, MA (US);

President and Fellows of Harvard College, Cambridge, MA (US);

Inventors:

Giulio Genovese, Cambridge, MA (US);

Po-Ru Loh, Cambridge, MA (US);

Steven McCarroll, Cambridge, MA (US);

Assignees:

The Broad Institute, Inc., Cambridge, MA (US);

President and Fellows of Harvard College, Cambridge, MA (US);

Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
G16B 20/10 (2019.01); C12Q 1/6883 (2018.01); C12Q 1/6886 (2018.01); G16B 5/00 (2019.01); G16B 20/20 (2019.01); G16H 10/40 (2018.01);
U.S. Cl.
CPC ...
G16B 20/10 (2019.02); G16B 5/00 (2019.02); G16B 20/20 (2019.02); G16H 10/40 (2018.01); C12Q 1/6883 (2013.01); C12Q 1/6886 (2013.01);
Abstract

Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.


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