Paper · 42777077

Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878.

Maden G and 2 others. PLoS Comput Biol, 2026.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878. Papers, record 42777077. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/42777077

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Structural Variant benchmarking frameworks: Parameterization, matching logic, and evaluation assumptions presented through HG002 and NA12878.
Journal: PLoS Comput Biol
Year: 2026
Publication types: Journal Article
PubMed: https://pubmed.ncbi.nlm.nih.gov/42777077/
DOI: https://doi.org/10.1371/journal.pcbi.1014824
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC13623092/
The journal: https://conductscience.org/library/journal-index/101238922
Revised in PubMed: 2026-10-01

Source PubMed

Authors3

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename	ORCID iD
1	Maden G	Gamze	https://orcid.org/0000-0002-3404-4920
2	Baysan M	Mehmet
3	Aydın N	Nizamettin

Source PubMed

Topics9

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Genomic Structural Variation	Major topic
Genomics	Major topic
Algorithms
Benchmarking
Computational Biology
Humans
Polymorphism, Single Nucleotide
Software
Sequence Analysis, DNA

Source PubMed

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References74

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	39,202,440	Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A Systematic Review of Case-Control Studies.	Genes (Basel)	2024	https://conductscience.org/library/papers/39202440	PubMed
2	28,360,232	Genome graphs and the evolution of genome inference.	Genome Res	2017	https://conductscience.org/library/papers/28360232	PubMed
3	41,342,577	Toward a standardized framework for pangenome graph evaluation: assessing crop plant pangenome variation graph construction from multiple assemblies.	Gigascience	2025	https://conductscience.org/library/papers/41342577	PubMed
4	29,880,660	High-resolution comparative analysis of great ape genomes.	Science	2018	https://conductscience.org/library/papers/29880660	PubMed
5	36,695,634	Genome-Wide Analysis of Structural Variants in Parkinson Disease.	Ann Neurol	2023	https://conductscience.org/library/papers/36695634	PubMed
6	29,599,501	Piercing the dark matter: bioinformatics of long-range sequencing and mapping.	Nat Rev Genet	2018	https://conductscience.org/library/papers/29599501	PubMed
7	17,363,630	Strong association of de novo copy number mutations with autism.	Science	2007	https://conductscience.org/library/papers/17363630	PubMed
8	23,329,113	Phenotypic impact of genomic structural variation: insights from and for human disease.	Nat Rev Genet	2013	https://conductscience.org/library/papers/23329113	PubMed
9	41,290,682	Genome assembly and structural variations of Guyuan cattle.	Sci Data	2025	https://conductscience.org/library/papers/41290682	PubMed
10	25,665,008	The genomic and phenotypic diversity of Schizosaccharomyces pombe.	Nat Genet	2015	https://conductscience.org/library/papers/25665008	PubMed

1 to 10 of 74

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Cited by0

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None in this release.

Drugs0

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Data0

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None in this release.

Data dates

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PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

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ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

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ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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