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1.发明授权Increasing confidence of allele calls with molecular counting 有权ErhöhungderVerlässlichkeitvon Allel-Aufrufen mitMolekülzählung
公开(公告)号：EP2623613B1
公开(公告)日：2016-07-06
申请号：EP13164430.4
申请日：2011-09-20
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6855 , C12N15/1065 , C12Q1/6869 , C12Q1/6886 , C12Q1/70 , G06F19/18 , C12Q2525/179 , C12Q2525/191 , C12Q2545/101
摘要： 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.
摘要翻译： 本发明的方面包括用于确定源自在特定序列分析配置或过程中测序的相同原始样品的相同基因组区域的单个多核苷酸分子数目的方法和组合物。 在本发明的这些方面，将简并碱基区（DBR）连接到随后测序的起始多核苷酸分子（例如，在进行某些工艺步骤之后，例如扩增和/或富集）。 存在于测序运行中的不同DBR序列的数目可用于确定/估计已测序的不同起始多核苷酸的数目。 DBR可用于增强许多不同的核酸序列分析应用，包括在基因分型应用中允许更高置信等位基因调用测定。
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公开(公告)号：EP2623613B8
公开(公告)日：2016-09-07
申请号：EP13164430.4
申请日：2011-09-20
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6855 , C12N15/1065 , C12Q1/6869 , C12Q1/6886 , C12Q1/70 , G06F19/18 , C12Q2525/179 , C12Q2525/191 , C12Q2545/101
摘要： 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.
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公开(公告)号：EP2623613A1
公开(公告)日：2013-08-07
申请号：EP13164430.4
申请日：2011-09-20
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6855 , C12N15/1065 , C12Q1/6869 , C12Q1/6886 , C12Q1/70 , G06F19/18 , C12Q2525/179 , C12Q2525/191 , C12Q2545/101
摘要： 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.
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