公开(公告)号：US20200051663A1

公开(公告)日：2020-02-13

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: G16B30/00

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.

公开(公告)号：US20160026753A1

公开(公告)日：2016-01-28

申请号：US14749257

申请日：2015-06-24

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Brijesh Krishnaswami ,  Srikanth JANDHYALA ,  Yuandan LOU ,  Asim SIDDIQUI ,  Mrunal AGATE ,  Ameet DHAPULKAR ,  Heinz BREU ,  Amitabh SHUKLA ,  Karl KUHLMANN ,  Fiona HYLAND ,  Gulsah ALTUN ,  Daryl THOMAS

IPC: G06F19/18 ,  G06F19/28

CPC classification number: 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.

Abstract translation: 用于在基因组内注释变体的系统和方法可以直接从读取或接收所调用的变体调用变体，并将被叫变体与功能注释和解释性注释相关联。 可以生成所调用的变体，关联的功能注释和相关联的解释性注释的总结报告。

公开(公告)号：US20170199734A1

公开(公告)日：2017-07-13

申请号：US15412156

申请日：2017-01-23

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Amitabh SHUKLA ,  Yuandan LOU ,  Brijesh KRISHNASWAMI

IPC: G06F9/445 ,  G06F19/28 ,  G06F9/44

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.

公开(公告)号：US20190172549A1

公开(公告)日：2019-06-06

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：US20130091126A1

公开(公告)日：2013-04-11

申请号：US13648998

申请日：2012-10-10

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Brijesh KRISHNASWAMI ,  Srikanth JANDHYALA ,  Yuandan LOU ,  Asim SIDDIQUI ,  Mrunal AGATE ,  Ameet DHAPULKAR ,  Heinz BREU ,  Amitabh SHUKLA ,  Karl KUHLMANN ,  Fiona HYLAND ,  Gulsah ALTUN ,  Daryl THOMAS

IPC: G06F17/30

CPC classification number: 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.

Abstract translation: 用于在基因组内注释变体的系统和方法可以直接从读取或接收所调用的变体调用变体，并将被叫变体与功能注释和解释性注释相关联。 可以生成所调用的变体，关联的功能注释和相关联的解释性注释的总结报告。