STRUCTURAL VARIANT ALIGNMENT AND VARIANT CALLING BY UTILIZING A STRUCTURAL-VARIANT REFERENCE GENOME

    公开(公告)号:US20240404624A1

    公开(公告)日:2024-12-05

    申请号:US18731046

    申请日:2024-05-31

    Applicant: Illumina, Inc.

    Abstract: This disclosure describes methods, non-transitory computer-readable media, and systems that can (i) identify reads that align with at least some portion of alternative contiguous sequences representing structural variant haplotypes within a structural variant reference genome and (ii) generate a structural-variant-alignment tag within an alignment file for such read alignments to guide identifying candidate structural-variant locations. In addition to employing structural-variant-alignment tags, the disclosed systems identify read fragments that align or overlap with portions of alternate contiguous sequences representing an insertion (or other structural variant) and further masks such insertion-overlapping read fragments as part of an alignment file. When a read aligns completely within an insertion-representing alternate contiguous sequence, the disclosed system can mark the genomic coordinate corresponding to a primary contiguous sequence at which the insertion alternate contiguous sequence is lifted over and generates an unaligned read base indicator indicating that such an insertion-aligned nucleotide read is masked.

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