BIOINFORMATICS SYSTEMS, APPARATUSES, AND METHODS FOR PERFORMING SECONDARY AND/OR TERTIARY PROCESSING

    公开(公告)号:EP4362030A3

    公开(公告)日:2024-07-17

    申请号:EP24162764.5

    申请日:2017-06-07

    申请人: ILLUMINA, INC.

    IPC分类号: G16B30/10 G16B50/30 G06F21/76

    CPC分类号: G16B50/30 G16B30/10

    摘要: A system, method and a computer-readable storage device for improving the accuracy of a variant call by jointly evaluating reads that map to two or more regions of a reference sequence that are homologous are disclosed. The method comprises accessing a joint-pileup including a first pileup of sequence reads that have been aligned to a first region of the reference sequence and at least a second pileup of reads that have been aligned to a second region of the reference sequence, wherein the first region and the second region are homologous with each other; determining a set of candidate variants from the joint-pileup; defining a connection matrix that defines an order of processing of the candidate variants; evaluating, by the one or more computers, each of the candidate variants from the set of candidate variants based on the defined processing order; and generating variant call file that identifies one or more of the candidate variants.