Increasing confidence of allele calls with molecular counting
AssigneePopulation Genetics Technologies Ltd
InventorsJames Casbon, Sydney Brenner, Robert Osborne, Conrad Lichtenstein, Andreas Claas
Life of this patent
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AssigneePopulation Genetics Technologies Ltd
InventorsJames Casbon, Sydney Brenner, Robert Osborne, Conrad Lichtenstein, Andreas Claas
Estimating the term…
Aspects of the present invention include methods and compositions for determining the number of individual polynucleotide molecules originating from the same genomic region of the same original sample that have been sequenced in a particular sequence analysis configuration or process. In these aspects of the invention, a degenerate base region (DBR) is attached to the starting polynucleotide molecules that are subsequently sequenced (e.g., after certain process steps are performed, e.g., amplification and/or enrichment). The number of different DBR sequences present in a sequencing run can be used to determine/estimate the number of different starting polynucleotides that have been sequenced. DBRs can be used to enhance numerous different nucleic acid sequence analysis applications, including allowing higher confidence allele call determinations in genotyping applications.
A method for assessing the presence of an allele of a polymorphic target sequence in a tagged genomic sample, comprising:
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