Evidence map›Paper›PMID 42285985›Full record

ArticleScientific reports2026

Genome-wide pervasiveness and localized variation of [Formula: see text]-mer-based genomic signatures in eukaryotes.

Niousha Sadjadi, Camila P E de Souza, Gurjit S Randhawa, Kathleen A Hill, Lila Kari

Abstract read
In one paragraph

Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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

What it found

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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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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
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

5 authors.

Niousha SadjadiSchool of Computer Science, University of Waterloo, Waterloo, ON, N2L 3G1, Canada. nsadjadi@uwaterloo.ca.
Camila P E de SouzaDepartment of Statistical and Actuarial Sciences, University of Western Ontario, London, ON, N6A 5B7, Canada.
Gurjit S RandhawaSchool of Computer Science, University of Guelph, Guelph, ON, N1G 2W1, Canada.
Kathleen A Hill *Department of Biology, University of Western Ontario, London, ON, N6A 5B7, Canada.
Lila Kari *School of Computer Science, University of Waterloo, Waterloo, ON, N2L 3G1, Canada.

Funding

Alliance de recherche numérique du Canada 616Natural Sciences and Engineering Research Council of Canada RGPIN-2022-03547
6 · The paper itself

Abstract

Genomic signatures-taxon-specific patterns in nucleotide composition-are widely used for taxonomic assignment and comparative genomics, yet their genome-wide pervasiveness across Telomere-to-Telomere assemblies, particularly within functionally diverse and highly repetitive regions, remains undercharacterized. We address this gap with an alignment-free, [Formula: see text]-mer-based analysis using Frequency Chaos Game Representations (FCGRs) across the human genome and three additional eukaryotes from distinct kingdoms. First, by combining qualitative inspection of FCGR landscapes with quantitative distance benchmarking, we show that each species exhibits a stable genomic signature across most chromosomes, with localized departures concentrated in regions enriched for short and long tandem repeats. Then, we introduce two computational pipelines that automatically select a short, contiguous representative genomic segment (500 Kbp) per genome and use it as a proxy to quantify intragenomic variation. Using DSSIM on a [0,1] scale, 80% of 500 Kbp segments in the human genome lie within 0.24 of the representative; segments exceeding this threshold align with tandem-repeat-dense loci. Leveraging these representatives in downstream tasks yields practical gains-for example, one-nearest-neighbor taxonomic classification improves by 7% relative to choosing a random segment. Finally, we provide kCGR-Diff, a graphical tool that enables side-by-side visualization and quantitative comparison of FCGR-based genomic signatures for sample or user-provided sequences, facilitating exploratory analyses of intragenomic variation within and across species. Collectively, our results provide extensive qualitative and quantitative evidence that [Formula: see text]-mer-based genomic signatures are pervasive at genome scale while varying predictably in repeat-dense regions, and they introduce practical methods and software for proxy selection and comparative analysis.

Indexed as

EukaryotaGenome, HumanGenomicsAnimalsGenetic VariationHumansAlignment-free DNA sequence comparisonChaos game representation (CGR)Distance measuresFrequency chaos game representation (FCGR)Genomic signatureRepresentative sequence

Identifiers

PMID42285985
PMCPMC13294376

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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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.