2026-10-06T19:08:57Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34022873 2026-09-29T10:40:23Z category_37339 category_37354 category_37375 portal_1012 item_type_1 month_year_09_2026

Figure 1 from Improving Long-Read Somatic Structural Variant Calling with Pangenome and <i>De Novo</i> Personal Genome Assembly Qian Qin (25136621) Jakob M. Heinz (25136624) Heng Li (9531776) Cancer Molecular and Cellular Biology Methods and Technology Algorithms Computational Methods Software Genome Biology Structural genomics Sequence Analysis <p>Overview of somatic SV calling and filtering workflow. Minisv starts from the existing somatic SV call set. Step (1) Extract reads from somatic SVs in the tumor from the call set; (2) realign SV-containing reads to GRCh38, normal self-assembly (if available), and/or pangenome and extract candidate SVs from the realignment in the read coordinate; (3) compare the candidate SVs resulting from the alignment against multiple genomes; and (4) for each SV call set, extract supporting reads and filter a read if its alignment to the self-assembly and/or pangenome does not contain the SV. Given multiple SV callers, minisv can generate a union somatic call set. Gray boxes denote the reference genome such as GRCh38; cyan boxes denote contigs from self-assembly; short red bars indicate potential somatic SVs; thin blue lines correspond to reads from the tumor aligned to the contigs of different reference genomes; thin orange lines correspond to reads from the normal control; and large brown circles indicate pangenome variant nodes that vary across individuals.</p> 2026-09-29T00:00:00Z Image Figure 10.1158/2767-9764.34022873 https://figshare.com/articles/figure/Figure_1_from_Improving_Long-Read_Somatic_Structural_Variant_Calling_with_Pangenome_and_i_De_Novo_i_Personal_Genome_Assembly/34022873 CC BY