公开(公告)号：US10937522B2

公开(公告)日：2021-03-02

申请号：US16211609

申请日：2018-12-06

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Brijesh Krishnaswami ,  Yuandan Lou ,  Asim Siddiqui ,  Heinz Breu ,  Amitabh Shukla ,  Karl Kuhlmann

IPC: G16B20/00 ,  G06F16/9038 ,  G16B50/00

Abstract: Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.

公开(公告)号：US20140088880A1

公开(公告)日：2014-03-27

申请号：US14032396

申请日：2013-09-20

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Amitabh Shukla ,  Yuandan Lou ,  Brijesh Krishnaswami

IPC: G06F19/10

CPC classification number: G06F8/65 ,  G06F8/71 ,  G16B50/00 ,  G16B99/00

Abstract: Systems and methods for performing a validated analysis can include access to first and second versions of an analysis engine. The first version of the analysis engine can be used to perform a previously validated analysis. After the second version is made available, the first version can be continued to be used while the second version undergoes validation. The user can initiate a migration from the first version to the second version when the validation is complete. Access to both versions can be maintained for a period of time to allow users to migrate on their own schedule, and a common login interface can direct the user to a default version or allow the user to select an alternate version.

Abstract translation: 执行验证分析的系统和方法可以包括访问分析引擎的第一和第二版本。 分析引擎的第一个版本可用于执行以前验证的分析。 第二个版本可用后，可以继续使用第一个版本，而第二个版本进行验证。 当验证完成时，用户可以启动从第一个版本迁移到第二个版本。 对这两个版本的访问可以维持一段时间，以便用户可以按照自己的时间表进行迁移，并且通用登录界面可以将用户定向到默认版本，或允许用户选择备用版本。

公开(公告)号：US11817180B2

公开(公告)日：2023-11-14

申请号：US16279315

申请日：2019-02-19

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Zheng Zhang ,  Danwei Guo ,  Yuandan Lou ,  Asim Siddiqui ,  Dumitru Brinza

IPC: G16B30/10 ,  G16B30/00 ,  G16B30/20

CPC classification number: G16B30/10 ,  G16B30/00 ,  G16B30/20

Abstract: Nucleic acid sequence mapping/assembly methods are disclosed. The methods initially map only a contiguous portion of each read to a reference sequence and then extends the mapping of the read at both ends of the mapped contiguous portion until the entire read is mapped (aligned). In various embodiments, a mapping score can be calculated for the read alignment using a scoring function, score (i, j)=M+mx, where M can be the number of matches in the extended alignment, x can be the number of mismatches in the alignment, and m can be a negative penalty for each mismatch. The mapping score can be utilized to rank or choose the best alignment for each read.