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. 30, 2021

Filed:

Apr. 27, 2010
Applicants:

Bhubaneswar Mishra, New York, NY (US);

Giuseppe Narzisi, New York, NY (US);

Inventors:

Bhubaneswar Mishra, New York, NY (US);

Giuseppe Narzisi, New York, NY (US);

Assignee:

New York University, New York, NY (US);

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

Exemplary methods, procedures, computer-accessible medium, and systems for base-calling, aligning and polymorphism detection and analysis using raw output from a sequencing platform can be provided. A set of raw outputs can be used to detect polymorphisms in an individual by obtaining a plurality of sequence read data from one or more technologies (e.g., using sequencing-by-synthesis, sequencing-by-ligation, sequencing-by-hybridization, Sanger sequencing, etc.). For example, provided herein are exemplary methods, procedures, computer-accessible medium and systems, which can include and/or be configured for obtaining raw output from a sequencing platform configured to be used for reading fragment(s) of genomes, obtaining reference sequences for the genomes obtained independently from the raw output, and generating a base-call interpretation and/or alignment using the raw output and the reference sequences. For example, a score function can be determined based on information associated with the sequencing platform that can be used to analyze polymorphisms based on the base-call interpretation and/or alignment.


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