Information theoretic clustering of the human pangenome minigraph

Information theoretic clustering, long-range correlation, power-law scaling and self-similarity concepts have been broadly adopted for characterizing genomic features such as nucleotide composition, flexibility and bending. In this work, the 24 chromosomes of the human pangenome minigraphs, recently assembled by the Human Pangenome Reference Consortium (HPRC), are investigated to check to what extent self-similarity and scaling features are preserved in comparison to the reference linear sequences of the T2T-CHM13 individual. By taking the nucleotide self-similarity of the reference chromosomes as benchmark, it is shown that the pangenome minigraph segments exhibit lower self-similarity of the nucleotide composition compared to the linear sequence. The proposed information measures can be adopted to quantify the nucleotide self-similarity patterns and complement standard alignment techniques towards the coherent definition of the genomic profile of each species. • Genomic string of text (A, G, C, T chars) are mapped to numerical sequences. • Order/disorder of nucleotides within the string is relevant to biological processes. • Clustering of nucleotide strings provide insights on genomic internal organization. • Pangenome minigraphs gather together information content from same species sequences. • Clustering of minigraph quantifies compositional order of human pangenome.

Authors

Publication Details

Journal
Pattern Recognition Letters
Published
2025-03-12
DOI
https://doi.org/10.1016/j.patrec.2025.03.004
Citations
1
Primary Topic
Fractal and DNA sequence analysis
Type
article
Field-Weighted Citation Impact
0.81

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article

Information theoretic clustering of the human pangenome minigraph

Filippo Gandino, Renato Ferrero, A. Carbone
1 citations
Pattern Recognition Letters
Fractal and DNA sequence analysis
0.81
article

Information theoretic clustering of the human pangenome minigraph

Filippo Gandino, Renato Ferrero, A. Carbone
article en
1 citations

Abstract

Information theoretic clustering, long-range correlation, power-law scaling and self-similarity concepts have been broadly adopted for characterizing genomic features such as nucleotide composition, flexibility and bending. In this work, the 24 chromosomes of the human pangenome minigraphs, recently assembled by the Human Pangenome Reference Consortium (HPRC), are investigated to check to what extent self-similarity and scaling features are preserved in comparison to the reference linear sequences of the T2T-CHM13 individual. By taking the nucleotide self-similarity of the reference chromosomes as benchmark, it is shown that the pangenome minigraph segments exhibit lower self-similarity of the nucleotide composition compared to the linear sequence. The proposed information measures can be adopted to quantify the nucleotide self-similarity patterns and complement standard alignment techniques towards the coherent definition of the genomic profile of each species. • Genomic string of text (A, G, C, T chars) are mapped to numerical sequences. • Order/disorder of nucleotides within the string is relevant to biological processes. • Clustering of nucleotide strings provide insights on genomic internal organization. • Pangenome minigraphs gather together information content from same species sequences. • Clustering of minigraph quantifies compositional order of human pangenome.

Pattern Recognition LettersVol. 191
HORIZON EUROPE Framework Programme
Openalex Percentile: Top 30%
Fractal and DNA sequence analysis
0.81
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