2026-10-14T14:18:50Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33977220 2026-09-23T17:53:03Z category_146 category_7 category_13 category_14 category_45 category_734 category_64 portal_5 item_type_3 month_year_09_2026

<p>Example representative variants from HG002 unified variant universe illustrating cross-framework agreement and disagreement.</p> Gamze Maden (25099455) Mehmet Baysan (113137) Nizamettin Aydın (25099458) Space Science Medicine Genetics Molecular Biology Sociology Biological Sciences not elsewhere classified Cancer specific position exists na12878 reference samples empirical example based evaluation assumptions presented dependent evaluation outcomes single nucleotide polymorphisms several sv callers na12878 </ p sv comparison modules evaluation outcomes sv callers five callers variable size unlike snps underlying strategy snps ). size concordance sequence similarity query sets primary focus matching logic interpretation rather imprecise breakpoints implemented parameters genomic context genomic changes breakpoint resolution binary representation accurate detection <p>Example representative variants from HG002 unified variant universe illustrating cross-framework agreement and disagreement.</p> 2026-09-23T17:41:01Z Dataset Dataset 10.1371/journal.pcbi.1014824.t001 https://figshare.com/articles/dataset/_p_Example_representative_variants_from_HG002_unified_variant_universe_illustrating_cross-framework_agreement_and_disagreement_p_/33977220 CC BY 4.0