公开(公告)号：US20150329899A1

公开(公告)日：2015-11-19

申请号：US14711501

申请日：2015-05-13

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Dumitru BRINZA

IPC: C12Q1/68

CPC classification number: C12Q1/6806 ,  C12Q1/6858 ,  C12Q1/6869 ,  G06F19/22 ,  C12Q2525/161 ,  C12Q2525/173

Abstract: Systems and method for validation of sequencing results can amplify a target region of a nucleic acid sample in the presence of a primer pool including target specific and variant specific primers. The variant specific primers can include variant specific barcodes and variant specific sequences. An amplicon can be sequenced to determine the sequence of the variant specific barcode. The variant can be identified based on the sequence of the variant specific barcode, and the location of the variant can be determined by mapping the amplicon to a reference sequence.

Abstract translation: 用于验证测序结果的系统和方法可以在包含靶特异性和变异特异性引物的引物库的存在下扩增核酸样品的靶区域。 变体特异性引物可以包括变体特异性条形码和变体特异性序列。 可以对扩增子进行测序以确定变体特异性条形码的顺序。 可以基于变体特异性条形码的序列来鉴定变体，并且可以通过将扩增子映射到参考序列来确定变体的位置。

公开(公告)号：US20130345066A1

公开(公告)日：2013-12-26

申请号：US13890923

申请日：2013-05-09

Applicant: Life Technologies Corporation

Inventor： Dumitru BRINZA ,  Zheng ZHANG ,  Fiona HYLAND ,  Rajesh GOTTIMUKKALA

IPC: C12Q1/68 ,  G06F19/12

CPC classification number: C12Q1/6874 ,  G16B5/00 ,  G16B30/00

Abstract: Systems and method for determining variants can receive mapped reads, align flow space information to a flow space representation of a corresponding portion of the reference. Reads spanning a position with a potential variant can be evaluated in a context specific manner. A list of probable variants can be provided.

Abstract translation: 用于确定变体的系统和方法可以接收映射读取，将流空间信息对准参考的对应部分的流空间表示。 可以以上下文特定的方式评估跨越具有潜在变体的位置的读数。 可以提供可能的变体列表。