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Concentration of inverted repeats along human DNA
This work aims to describe the observed enrichment of inverted repeats in the human genome; and to identify and describe, with detailed length profiles, the regions with significant and relevant enriched occurrence of inverted repeats. The enrichment is assessed and tested with a recently proposed m...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10561070/ https://www.ncbi.nlm.nih.gov/pubmed/37486620 http://dx.doi.org/10.1515/jib-2022-0052 |
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author | Bastos, Carlos A. C. Afreixo, Vera Rodrigues, João M. O. S. Pinho, Armando J. |
author_facet | Bastos, Carlos A. C. Afreixo, Vera Rodrigues, João M. O. S. Pinho, Armando J. |
author_sort | Bastos, Carlos A. C. |
collection | PubMed |
description | This work aims to describe the observed enrichment of inverted repeats in the human genome; and to identify and describe, with detailed length profiles, the regions with significant and relevant enriched occurrence of inverted repeats. The enrichment is assessed and tested with a recently proposed measure (z-scores based measure). We simulate a genome using an order 7 Markov model trained with the data from the real genome. The simulated genome is used to establish the critical values which are used as decision thresholds to identify the regions with significant enriched concentrations. Several human genome regions are highly enriched in the occurrence of inverted repeats. This is observed in all the human chromosomes. The distribution of inverted repeat lengths varies along the genome. The majority of the regions with severely exaggerated enrichment contain mainly short length inverted repeats. There are also regions with regular peaks along the inverted repeats lengths distribution (periodic regularities) and other regions with exaggerated enrichment for long lengths (less frequent). However, adjacent regions tend to have similar distributions. |
format | Online Article Text |
id | pubmed-10561070 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | De Gruyter |
record_format | MEDLINE/PubMed |
spelling | pubmed-105610702023-10-10 Concentration of inverted repeats along human DNA Bastos, Carlos A. C. Afreixo, Vera Rodrigues, João M. O. S. Pinho, Armando J. J Integr Bioinform Workshop This work aims to describe the observed enrichment of inverted repeats in the human genome; and to identify and describe, with detailed length profiles, the regions with significant and relevant enriched occurrence of inverted repeats. The enrichment is assessed and tested with a recently proposed measure (z-scores based measure). We simulate a genome using an order 7 Markov model trained with the data from the real genome. The simulated genome is used to establish the critical values which are used as decision thresholds to identify the regions with significant enriched concentrations. Several human genome regions are highly enriched in the occurrence of inverted repeats. This is observed in all the human chromosomes. The distribution of inverted repeat lengths varies along the genome. The majority of the regions with severely exaggerated enrichment contain mainly short length inverted repeats. There are also regions with regular peaks along the inverted repeats lengths distribution (periodic regularities) and other regions with exaggerated enrichment for long lengths (less frequent). However, adjacent regions tend to have similar distributions. De Gruyter 2023-07-25 /pmc/articles/PMC10561070/ /pubmed/37486620 http://dx.doi.org/10.1515/jib-2022-0052 Text en © 2023 the author(s), published by De Gruyter, Berlin/Boston https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Workshop Bastos, Carlos A. C. Afreixo, Vera Rodrigues, João M. O. S. Pinho, Armando J. Concentration of inverted repeats along human DNA |
title | Concentration of inverted repeats along human DNA |
title_full | Concentration of inverted repeats along human DNA |
title_fullStr | Concentration of inverted repeats along human DNA |
title_full_unstemmed | Concentration of inverted repeats along human DNA |
title_short | Concentration of inverted repeats along human DNA |
title_sort | concentration of inverted repeats along human dna |
topic | Workshop |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10561070/ https://www.ncbi.nlm.nih.gov/pubmed/37486620 http://dx.doi.org/10.1515/jib-2022-0052 |
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