Population Genetics Technologies Ltd.

Population Genetics Technologies Litd.

Agilent Technologies, Inc.

Conrad Lichtenstein

Sydney Brenner

Robert Osborne

James Casbon

Andreas Claas

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.

Increased confidence of allele calls with molecular counting

Method of tagging using a split DBR

Method of adding a DBR by primer extension

Method for preparing a counter-tagged population of nucleic acid molecules

Method for accurately counting starting molecules

Increasing confidence of allele calls with molecular counting

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Cambridge, United Kingdom

Conrad Lichtenstein