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:
Mar. 12, 2024

Filed:

Jan. 22, 2018
Applicant:

Sequenom, Inc., San Diego, CA (US);

Inventors:

Mostafa Azab, San Diego, CA (US);

Michael Sykes, San Diego, CA (US);

Youting Sun, San Diego, CA (US);

Amin Mazloom, Del Mar, CA (US);

Taylor Jensen, San Diego, CA (US);

Mathias Ehrich, San Diego, CA (US);

Christopher Ellison, San Diego, CA (US);

Assignee:

SEQUENOM, INC, San Diego, CA (US);

Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
G16B 20/20 (2019.01); C12Q 1/6816 (2018.01); G16B 20/10 (2019.01); G16B 20/40 (2019.01); G16B 25/00 (2019.01); G16B 30/10 (2019.01);
U.S. Cl.
CPC ...
G16B 20/20 (2019.02); C12Q 1/6816 (2013.01); G16B 20/10 (2019.02); G16B 25/00 (2019.02); G16B 30/10 (2019.02); G16B 20/40 (2019.02);
Abstract

Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genetic alterations. In particular, a method is provided for that includes obtaining a set of sequence reads. The sequence reads each include a single molecule barcode (SMB) sequence that is a non-random oligonucleotide sequence. The method further includes assigning the sequence reads to read groups according to a read group signature. The read group signature comprises an SMB sequence and a start and end position of a nucleic acid fragment from the circulating cell free sample nucleic acid. The sequence reads comprising start and end positions and an SMB sequence similar to the read group signature are assigned to a read group. The method further includes generating a consensus for each read group, and determining the presence or absence of a genetic alteration based on the consensus for each read group.


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