公开(公告)号：WO2013055822A3

公开(公告)日：2013-10-10

申请号：PCT/US2012059601

申请日：2012-10-10

Applicant: LIFE TECHNOLOGIES CORP

Inventor： KRISHNASWAMI BRIJESH ,  JANDHYALA SRIKANTH ,  LOU YUANDAN ,  SIDDIQUI ASIM ,  AGATE MRUNAL ,  DHAPULKAR AMEET ,  BREU HEINZ ,  SHUKLA AMITABH ,  KUHLMANN KARL ,  HYLAND FIONA ,  ALTUN GULSAH ,  THOMAS DARYL

IPC: G06F19/18 ,  G06F19/28

CPC classification number: G06F19/18 ,  G06F17/30991 ,  G06F19/28

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: 用于注释基因组内的变体的系统和方法可以从读取中调用变体或直接接收称为变体，并将所调用的变体与功能性注释和解释性注释相关联。 可以生成被调用变体的摘要报告，相关功能注释和相关的解释性注释。

公开(公告)号：WO2011137368A2

公开(公告)日：2011-11-03

申请号：PCT/US2011034611

申请日：2011-04-29

Applicant: LIFE TECHNOLOGIES CORP ,  ZHANG ZHENG ,  GUO DANWEI ,  LOU YUANDAN ,  BRINZA DUMITRU

Inventor： ZHANG ZHENG ,  GUO DANWEI ,  LOU YUANDAN ,  BRINZA DUMITRU

IPC: G06F19/22 ,  C12Q1/68 ,  G06F19/28

CPC classification number: G06F19/22

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.

Abstract translation: 公开了核酸序列作图/装配方法。 这些方法首先将每个读取的连续部分映射到参考序列，然后扩展映射的连续部分的两端的读取映射，直到整个读取被映射（对齐）。 在各种实施例中，可以使用评分函数score（i，j）= M + mx来计算读取对齐的映射分数，其中M可以是扩展对齐中的匹配数，x可以是不匹配的数量 在对齐中，m可以是每个不匹配的负面惩罚。 映射分数可用于对每次读取进行排序或选择最佳对齐。