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：WO2011137356A3

公开(公告)日：2012-03-01

申请号：PCT/US2011034592

申请日：2011-04-29

Applicant: LIFE TECHNOLOGIES CORP ,  VATTA PAOLO ,  SAKARYA ONUR ,  BREU HEINZ ,  POPESCU LIVIU ,  SIDDIQUI ASIM ,  HYLAND FIONA

Inventor： VATTA PAOLO ,  SAKARYA ONUR ,  BREU HEINZ ,  POPESCU LIVIU ,  SIDDIQUI ASIM ,  HYLAND FIONA

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

CPC classification number: G06F19/22

Abstract: Systems and methods are used to identify an exon junction from a single read of a transcript. A transcript sample is interrogated and a read sequence is produced using a nucleic acid sequencer. A first exon sequence and a second exon sequence are obtained using the processor. The first exon sequence is mapped to a prefix of the read sequence using the processor. The second exon sequence is mapped to a suffix of the read sequence using the processor. A sum of a number of sequence elements of the first exon sequence that overlap the prefix of the read sequence, of a number of sequence elements of the second exon sequence that overlap the suffix of the read sequence, and of a constant is calculated using the processor. If the sum equals a length of the read sequence, a junction is identified in the read using the processor.

Abstract translation: 系统和方法用于从单次阅读誊本中鉴定外显子结。 询问转录物样品，并使用核酸测序仪产生读序列。 使用处理器获得第一外显子序列和第二外显子序列。 使用处理器将第一个外显子序列映射到读取序列的前缀。 第二个外显子序列使用处理器映射到读序列的后缀。 与第一外显子序列的重叠序列的序列的多个序列元素的总和，与读取序列的后缀重叠的第二外显子序列的多个序列元件的数量以及常数的序列元素的总和，使用 处理器。 如果总和等于读取序列的长度，则使用处理器在读取中识别结。