公开(公告)号：US20200090784A1

公开(公告)日：2020-03-19

申请号：US16467228

申请日：2018-01-16

Applicant: ILLUMINA, INC.

Inventor： June Snedecor ,  Han-Yu Chuang ,  Gwenn Berry ,  Xiao Chen

IPC: G16B20/20 ,  G16B30/10 ,  C12N15/10 ,  C12Q1/6809 ,  C12Q1/6886

Abstract: Presented herein are systems and methods for identifying splice variants. The techniques include determining one or more sample splice junctions from a plurality of RNA sequence reads from a single biological sample, retrieving a set of baseline splice junctions determined from a plurality of healthy RNA samples and comparing the one or more sample splice junctions to the set of baseline splice junctions to identify one or more filtered sample splice junctions comprising sample splice junctions that do not overlap with the baseline splice junctions, wherein the one or more filtered sample splice junctions are candidate oncogenic events.