Evidence map›Paper›PMID 32783649›Full record

ArticleJournal of computational biology : a journal of computational molecular cell biology2021

Complex Variant Discovery Using Discordant Cluster Normalization.

Matthew Hayes, Derrick Mullins, Angela Nguyen

Abstract readComparative Study
In one paragraph

Article in Journal of computational biology : a journal of computational molecular cell biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Matthew HayesDepartment of Physics and Computer Science and Xavier University of Louisiana, New Orleans, Louisiana, USA.
Derrick MullinsDepartment of Physics and Computer Science and Xavier University of Louisiana, New Orleans, Louisiana, USA.
Angela NguyenDepartment of Biology, Xavier University of Louisiana, New Orleans, Louisiana, USA.

Funding

Building Integrated Pathways to Independence for Diverse Biomedical ResearchersUL1GM118967 · NIGMS · XAVIER UNIVERSITY OF LOUISIANA · PI FOROOZESH, MARYAM, GIGUETTE, MARGUERITE · 2015 to 2023
$17.7M
Xavier's RCMI Cancer Research ProgramG12MD007595 · NIMHD · XAVIER UNIVERSITY OF LOUISIANA · PI D'AMOUR, GENE, WANG, GUANGDI · 2012 to 2018
$15.7M
RISE Option II at Xavier University of LouisianaR25GM060926 · NIGMS · XAVIER UNIVERSITY OF LOUISIANA · PI FOROOZESH, MARYAM · 2002 to 2016
$3.0M
NIGMS NIH HHS R25 GM060926NIGMS NIH HHS UL1 GM118967NIMHD NIH HHS G12 MD007595
6 · The paper itself

Abstract

Complex genomic structural variants (CGSVs) are abnormalities that present with three or more breakpoints, making their discovery a challenge. The majority of existing algorithms for structural variant detection are only designed to find simple structural variants (SSVs) such as deletions and inversions; they fail to find more complex events such as deletion-inversions or deletion-duplications, for example. In this study, we present an algorithm named CleanBreak that employs a clique partitioning graph-based strategy to identify collections of SSV clusters and then subsequently identifies overlapping SSV clusters to examine the search space of possible CGSVs, choosing the one that is most concordant with local read depth. We evaluated CleanBreak's performance on whole genome simulated data and a real data set from the 1000 Genomes Project. We also compared CleanBreak with another algorithm for CGSV discovery. The results demonstrate CleanBreak's utility as an effective method to discover CGSVs.

Indexed as

Genomic Structural VariationAlgorithmsComputational BiologyGenome, HumanHumansclique partitioncomplex genomic structural variationgenome rearrangementstructural variation

Identifiers

PMID32783649
PMCPMC8030116

What OpenQuestion holds

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Registered trials

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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.