公开(公告)号：US20160019340A1

公开(公告)日：2016-01-21

申请号：US14802595

申请日：2015-07-17

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Rajesh Kumar Gottimukkala ,  Fiona Hyland

IPC: G06F19/22

CPC classification number: G16B30/00 ,  C12Q1/6869 ,  C12Q2535/122 ,  C12Q2563/116

Abstract: Systems and method for identifying gene fusions can obtain sequencing information for a plurality of amplicons from a nucleic acid sample. The sequencing information can include a plurality of reads that are initially partially mapped to a reference sequence. Fragments may be generated by splitting the partially mapped reads into mapped and unmapped fragments, and the fragments may be remapped to the reference sequence. Gene fusions can be identified based on reads where the first fragment maps to a first gene and the second fragment maps to a second gene.

Abstract translation: 用于鉴定基因融合物的系统和方法可以从核酸样品获得多个扩增子的测序信息。 排序信息可以包括最初部分地映射到参考序列的多个读取。 可以通过将部分映射的读取分割成映射和未映射的片段来生成片段，并且片段可以被重新映射到参考序列。 基因融合可以基于第一片段与第一个基因的读数相关，第二个片段映射到第二个基因。