Accelerating identification of single nucleotide polymorphisms and alignment of clones in genomic sequencing


Ontology type: sgo:Patent     


Patent Info

DATE

2013-02-05T00:00

AUTHORS

Francis Barany , Jianzhao Kiu , Brian W. Kirk , Monib Zirvi , Norman P. Gerry , Philip B. Paty

ABSTRACT

The present invention is directed to a method of assembling genomic maps of an organism's DNA or portions thereof. A library of an organism's DNA is provided where the individual genomic segments or sequences are found on more than one clone in the library. Representations of the genome are created, and nucleic acid sequence information is generated from the representations. The sequence information is analyzed to determine clone overlap from a representation. The clone overlap and sequence information from different representations is combined to assemble a genomic map of the organism. Once the genomic map is obtained, genomic sequence information from multiple individuals can be applied to the map and compared with one another to identify single nucleotide polymorphisms. These single nucleotide polymorphisms can be detected, and alleles quantified, by conducting (1) a global PCR amplification which creates a genome representation, and (2) a ligation detection reaction process whose ligation products are captured by hybridization to a support. More... »

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    The present invention is directed to a method of assembling genomic maps of an organism's DNA or portions thereof. A library of an organism's DNA is provided where the individual genomic segments or sequences are found on more than one clone in the library. Representations of the genome are created, and nucleic acid sequence information is generated from the representations. The sequence information is analyzed to determine clone overlap from a representation. The clone overlap and sequence information from different representations is combined to assemble a genomic map of the organism. Once the genomic map is obtained, genomic sequence information from multiple individuals can be applied to the map and compared with one another to identify single nucleotide polymorphisms. These single nucleotide polymorphisms can be detected, and alleles quantified, by conducting (1) a global PCR amplification which creates a genome representation, and (2) a ligation detection reaction process whose ligation products are captured by hybridization to a support.

    ", "id": "sg:patent.US-8367322-B2", "keywords": [ "single nucleotide polymorphism", "alignment", "Clone Cell", "genomic sequencing", "invention", "method", "assembling", "organism", "DNA", "portion", "library", "genomic segment", "sequence", "representation", "genome", "nucleic acid sequence", "sequence information", "different representation", "genomics", "genomic sequence information", "multiple individual", "map", "allele", "PCR amplification", "reaction process", "ligation", "hybridization" ], "name": "Accelerating identification of single nucleotide polymorphisms and alignment of clones in genomic sequencing", "recipient": [ { "id": "https://www.grid.ac/institutes/grid.51462.34", "type": "Organization" }, { "id": "https://www.grid.ac/institutes/grid.5386.8", "type": "Organization" } ], "sameAs": [ "https://app.dimensions.ai/details/patent/US-8367322-B2" ], "sdDataset": "patents", "sdDatePublished": "2019-04-18T10:10", "sdLicense": "https://scigraph.springernature.com/explorer/license/", "sdPublisher": { "name": "Springer Nature - SN SciGraph project", "type": "Organization" }, "sdSource": "s3://com-uberresearch-data-patents-target-20190320-rc/data/sn-export/402f166718b70575fb5d4ffe01f064d1/0000100128-0000352499/json_export_00465.jsonl", "type": "Patent" } ]
     

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    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/patent.US-8367322-B2'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/patent.US-8367322-B2'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/patent.US-8367322-B2'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/patent.US-8367322-B2'


     

    This table displays all metadata directly associated to this object as RDF triples.

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