Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly is a research paper (2025). On theSindex it has a DataRank of 0.172. It has been cited 2 times, with 1 citing works in its 1-hop citation network.
Accurate detection of mosaic and somatic structural variants (SVs) provides early diagnostic and therapeutic evidence for cancers. While long-read whole-genome sequencing leads to more accurate SV detection than short read sequencing, existing long-read SV callers only look at alignment against a single reference genome and are susceptible to systematic false discovery caused by germline differences between the individual genome and the reference genome. Here we develop a new SV calling method that jointly considers the alignment against a pangenome and the de novo assembly of the germline genome. It dramatically reduces false positive mosaic SVs in normal samples and somatic SVs in cancer cell lines with little loss in sensitivity. Our study highlights the essential need for pangenome or personal genome assembly to integrate SV calls for both SV discoveries and clinical diagnostics. Significance We introduced a novel long-read SV calling method that leverages pangenome and personal genome and greatly improves the accuracy of somatic SV calling.
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Base Score Contribution
0.165
From this paper's citation signal
Citation Network Contribution
7.01 × 10⁻³
From 1 citing papers with measurable signal
Ranked by citation count — the same ordering the engine uses when summing log1p(Cq) over citers.
DataRank blends this paper's own citation count with the influence of the papers that cite it. Here, roughly 96% comes from its base citations and 4% from the citation network (1 citing paper contributed measurable signal).
Citers are pulled from OpenAlex sorted by cited_by_count:descand capped per paper, so when the cap binds we keep the highest-signal references and the score is reproducible across reruns.
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