Evidence map›Paper›PMID 35116204›Full record

ArticlePeerJ2022

Fast, low-memory detection and localization of large, polymorphic inversions from SNPs.

Ronald J Nowling, Fabian Fallas-Moya, Amir Sadovnik, Scott Emrich, Matthew Aleck, Daniel Leskiewicz, John G Peters

Abstract read
In one paragraph

Article in PeerJ, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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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

4 citing papers in PubMed.

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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

7 authors.

Ronald J Nowling *Electrical Engineering and Computer Science, Milwaukee School of Engineering, Milwaukee, Wisconsin, United States of America.
Fabian Fallas-Moya *Electrical Engineering and Computer Science, University of Tennessee-Knoxville, Knoxville, Tennessee, United States.
Amir SadovnikElectrical Engineering and Computer Science, University of Tennessee-Knoxville, Knoxville, Tennessee, United States.
Scott EmrichElectrical Engineering and Computer Science, University of Tennessee-Knoxville, Knoxville, Tennessee, United States.
Matthew AleckElectrical Engineering and Computer Science, Milwaukee School of Engineering, Milwaukee, Wisconsin, United States of America.
Daniel LeskiewiczElectrical Engineering and Computer Science, Milwaukee School of Engineering, Milwaukee, Wisconsin, United States of America.
John G PetersElectrical Engineering and Computer Science, Milwaukee School of Engineering, Milwaukee, Wisconsin, United States of America.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLarge (>1 Mb), polymorphic inversions have substantial impacts on population structure and maintenance of genotypes. These large inversions can be detected from single nucleotide polymorphism (SNP) data using unsupervised learning techniques like PCA. Construction and analysis of a feature matrix from millions of SNPs requires large amount of memory and limits the sizes of data sets that can be analyzed.

methodsWe propose using feature hashing construct a feature matrix from a VCF file of SNPs for reducing memory usage. The matrix is constructed in a streaming fashion such that the entire VCF file is never loaded into memory at one time.

resultsWhen evaluated on

conclusionWith these changes, inversions in larger data sets can be analyzed easily and efficiently on common laptop and desktop computers. Our method is publicly available through our open-source inversion analysis software, Asaph.

Indexed as

AnophelesPolymorphism, Single NucleotideAnimalsChromosome InversionGenotypeSoftwareChromosomal inversionsFeature hashingPrincipal component analysisSingle nucleotide polymorphisms

Identifiers

PMID35116204
PMCPMC8784018

What OpenQuestion holds

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LicenceCC BY
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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.