Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Truvari: refined structural variant comparison preserves allelic diversity.

Genome biology - 27 Dec 2022

English Adam C, Menon Vipin K, Gibbs Richard A, Metcalf Ginger A, Sedlazeck Fritz J

Abstract excerpt

The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same. Common approaches for comparing SVs were developed alongside technologies which produce ill-defined boundaries. As SV detection becomes more exact, algorithms to preserve this refined signal are needed. Here, we present Truvari-an SV comparison, annotation, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Algorithms
Share to Alleles
Share to Benchmarking

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Genome, Human

Share to Genomic Structural Variation

Share to High-Throughput Nucleotide Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 36575487
DOI: 10.1186/s13059-022-02840-6
PMCID: PMC9793516

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Truvari: refined structural variant comparison preserves allelic diversity.PMID 36575487Read ↗

Anyone can be the best: Impact of diverse methodologies on the evaluation of structural variant callersSemantic proximity Read ↗

TT-Mars: Structural Variants Assessment Based on Haplotype-resolved AssembliesSemantic proximity Read ↗

Svirlpool: Multi-sample structural variant calling for Oxford Nanopore sequencing data using local read consensus assemblySemantic proximity Read ↗

SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping dataSemantic proximity Read ↗

Jasmine and Iris: population-scale structural variant comparison and analysis.Semantic proximity Read ↗

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing.Semantic proximity Read ↗

VISTA: an integrated framework for structural variant discovery.Semantic proximity Read ↗

GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.Semantic proximity Read ↗

HitSV: Maximizing discovery of structural variants across sequencing technologiesSemantic proximity Read ↗

VISTA: An integrated framework for structural variant discoverySemantic proximity Read ↗

Learning a refinement model for variant analysis in non-human primate genomes.Semantic proximity Read ↗

A sequence-aware merger of genomic structural variations at population scale.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.