Methods for determining sequence variants using ultra-deep sequencing

The claimed invention provides for new sample preparation methods enabling direct sequencing of PCR products using pyrophosphate sequencing techniques. The PCR products may be specific regions of a genome. The techniques provided in this disclosure allows for SNP (single nucleotide polymorphism) det...

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Bibliographische Detailangaben
Hauptverfasser: RONAN, MIKE, TODD, DESANY, BRIAN, LEE, WILLIAM, LUN, LEAMON, JOHN, HARRIS, DRAKE, JAMES, ROTHBERG, JONATHAN, SIMONS, JAN, FREDRICK, LOHMAN, KENTON, EGHOLM, MICHAEL
Format: Patent
Sprache:eng ; fre ; ger
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Zusammenfassung:The claimed invention provides for new sample preparation methods enabling direct sequencing of PCR products using pyrophosphate sequencing techniques. The PCR products may be specific regions of a genome. The techniques provided in this disclosure allows for SNP (single nucleotide polymorphism) detection, classification, and assessment of individual allelic polymorphisms in one individual or a population of individuals. The results may be used for diagnostic and treatment of patients as well as assessment of viral and bacterial population identification.