Evidence map›Paper›PMID 32182236›Full record

ArticlePLoS computational biology2020

SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures.

Kunal Kathuria, Aakrosh Ratan

Abstract read
In one paragraph

Article in PLoS computational biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

2 authors.

Kunal KathuriaCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America.ORCID 0000-0003-1898-8769
Aakrosh RatanCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America.ORCID 0000-0002-0782-3056

Funding

Women's Oncology Program - WONP30CA044579 · NCI · UNIVERSITY OF VIRGINIA CHARLOTTESVILLE · PI Thomas P. Loughran · 1987 to 2026
$72.1M
NCI NIH HHS P30 CA044579
6 · The paper itself

Abstract

The identification of structural variants using short-read data remains challenging. Most approaches that use discordant paired-end sequences ignore non-trivial signatures presented by variants containing 3 breakpoints, such as those generated by various copy-paste and cut-paste mechanisms. This can result in lower precision and sensitivity in the identification of the more common structural variants such as deletions and duplications. We present SVXplorer, which uses a graph-based clustering approach streamlined by the integration of non-trivial signatures from discordant paired-end alignments, split-reads and read depth information to improve upon existing methods. We show that SVXplorer is more sensitive and precise compared to several existing approaches on multiple real and simulated datasets. SVXplorer is available for download at https://github.com/kunalkathuria/SVXplorer.

Indexed as

SoftwareCluster AnalysisComputer SimulationDatabases, GeneticGenome, HumanGenomicsGenomic Structural VariationHumansRecombination, GeneticSequence Analysis, DNA

Identifiers

PMID32182236
PMCPMC7100977

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.