Evidence map›Paper›PMID 40918067›Full record

ArticleNAR genomics and bioinformatics2025

GViNC: an innovative framework for genome graph comparison reveals hidden patterns in the genetic diversity of human populations.

Venkatesh Kamaraj, Ayam Gupta, Karthik Raman, Manikandan Narayanan, Himanshu Sinha

Abstract read
In one paragraph

Article in NAR genomics and bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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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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2 · The registry

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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

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5 · Who and what money

Authors and funding

5 authors.

Venkatesh KamarajCentre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.ORCID https://orcid.org/0009-0008-7309-9810
Ayam GuptaCentre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.ORCID https://orcid.org/0009-0002-3608-0439
Karthik RamanCentre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.ORCID https://orcid.org/0000-0002-9311-7093
Manikandan NarayananCentre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.ORCID https://orcid.org/0000-0002-8490-4087
Himanshu SinhaCentre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.ORCID https://orcid.org/0000-0001-7031-0491

Funding

Wellcome Trust
6 · The paper itself

Abstract

Genome graphs provide a powerful reference structure for representing genetic diversity. Their structure emphasizes the polymorphic regions in a collection of genomes, enabling network-based comparisons of population-level variation. However, current tools are limited in their ability to quantify and compare structural features across large genome graphs. We introduce GViNC, Genome graph Visualization, Navigation, and Comparison, a novel framework that enables partitioning genome graphs into interpretable subgraphs, mapping linear coordinates to graph nodes, and summarizing both local and global structural variation using new metrics for variability, hypervariability, and graph distances. We applied GViNC to multiple pan-genomic and population-specific genome graphs constructed with over 85M variants in 2504 individuals from the 1000 Genomes Project. We found that genomic complexity varied by ancestry and across chromosomes, with rare variants increasing variability by 10-fold and hypervariability by 50-fold. GViNC highlighted key regions of the human genome, such as Human Leukocyte Antigen and DEFB loci, and many previously unreported high-diversity regions, some with population-specific signatures in protein-coding and regulatory genes. By bridging sequence-level variation and graph-level topology, GViNC enables scalable, quantitative exploration of genome structure across populations. GViNC's versatility can aid researchers in extensively investigating the genetic diversity of different cohorts, populations, or species of interest.

Indexed as

Genetics, PopulationGenetic VariationGenome, HumanGenomicsSoftwareHumans

Identifiers

PMID40918067
PMCPMC12408910

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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.