Evidence map›Paper›PMID 40478668›Full record

ArticleBioinformatics (Oxford, England)2025

SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies.

David Porubsky, Xavi Guitart, DongAhn Yoo, Philip C Dishuck, William T Harvey, Evan E Eichler

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Article in Bioinformatics (Oxford, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.

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55citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

55 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0001-8414-8966
Xavi GuitartDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.
DongAhn YooDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0003-2223-9787
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.ORCID 0000-0002-8246-4014

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NIH HHS R01 HG002385NIH HHS R01 HG010169
6 · The paper itself

Abstract

motivationWe are now in the era of being able to routinely generate highly contiguous (near telomere-to-telomere) genome assemblies of human and nonhuman species. Complex structural variation and regions of rapid evolutionary turnover are being discovered for the first time. Thus, efficient and informative visualization tools are needed to evaluate and directly observe structural differences between two or more genomes.

resultsWe developed SVbyEye, an open-source R package to visualize and annotate sequence-to-sequence alignments along with various functionalities to process these alignments. The tool facilitates the characterization of complex structural variants in the context of sequence homology helping resolve the mechanisms underlying their formation. AVAILABILITY AND IMPLEMENTATION: SVbyEye is available on GitHub (https://github.com/daewoooo/SVbyEye) and via Zenodo (https://doi.org/10.5281/zenodo.15303553).

Indexed as

GenomeGenomicsSoftwareAnimalsGenome, HumanHumansSequence AlignmentSequence Analysis, DNA

Identifiers

PMID40478668
PMCPMC12198750

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.