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:
Feb. 23, 2021

Filed:

Nov. 26, 2014
Applicant:

Personal Genome Diagnostics, Inc., Baltimore, MD (US);

Inventors:

Robert Osborne, Great Chesterford, GB;

Esther Musgrave-Brown, Cambridge, GB;

Assignee:

Personal Genome Diagnostics, Inc., Baltimore, MD (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/6869 (2018.01); G16B 30/00 (2019.01);
U.S. Cl.
CPC ...
C12Q 1/6869 (2013.01); G16B 30/00 (2019.02);
Abstract

A method of evaluating a sequence variation in a sample is provided. In some embodiments, the method may involve: amplifying a nucleic acid product from an initial sample; fragmenting an amount of the nucleic acid product to produce fragments; attaching an adaptor to each end of the fragments to produce adaptor-tagged fragments; sampling no more than 10% of the tagged fragments and amplifying them; sequencing at least some of the copies of the fragments to produce a plurality of sequence reads; grouping sequence reads for copies of fragments that have the same fragmentation breakpoints; deriving a consensus sequence for each of the read groups; and aligning the consensus sequences with a reference sequence.


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