Third generation sequencing alignment algorithm

A sequence and iterative technology, applied in the field of third-generation sequencing alignment algorithms, which can solve problems such as high error rate and confusion
CN108699601AInactive Publication Date: 2018-10-23THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIV
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIV
Publication Date
2018-10-23
Estimated Expiration
Not applicable · inactive patent

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Abstract

Methods, software, and systems for aligning a read sequence to a reference sequence are disclosed. In certain embodiments, the methods, software, and systems involve determining similarity of distribution of k-mers between a region of the read sequence and a region of the reference sequence in order to determine whether the region of the read sequence maps to the region of the reference sequence.
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Description

[0001] cross reference

[0002] This application claims the benefit of US Provisional Patent Application No. 62 / 294,205, filed February 11, 2016, which is hereby incorporated by reference in its entirety.

[0003] Statement Regarding Federally Sponsored Research or Development

[0004] This invention was made with government support under Contract R01HG007834 awarded by the National Institutes of Health. The government has certain rights in this invention. Background technique

[0005] Whole-genome sequencing has revolutionized biological and medically driven comprehensive characterization of DNA sequence changes, resequencing of multiple species, sequencing of microbial communities, detection of methylated regions of the genome, quantification of transcript abundance, characterization of DNA sequences present in a given sample The different isoforms of a gene, the extent to which the recognized mRNA transcript is efficiently translated, etc. Indeed, the field of pharmac...

Claims

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