公开(公告)号：US20130268207A1

公开(公告)日：2013-10-10

申请号：US13790713

申请日：2013-03-08

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Alexander JOYNER ,  Fiona HYLAND ,  Heinz BREU

IPC: G06F19/22

CPC classification number: G16B30/00

Abstract: Systems and method for identifying somatic mutations can receive first ans second sequence information, determine if a variant present in the first sequencing information is also present in the second sequence information, and identify variants present in the first sequence information are somatic mutations when the variant is either not present in the second sequence information or the presence of the variant in the second sequence information is likely due to a sequencing error.

Abstract translation: 用于鉴定体细胞突变的系统和方法可以接收第一和第二序列信息，确定第一序列信息中存在的变体是否也存在于第二序列信息中，并且鉴定第一序列信息中存在的变体是体细胞突变，当变体为 在第二序列信息中不存在或者存在第二序列信息中的变体可能是由于测序错误。

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。