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Journal Articles Genomics Year : 2020

The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach

Abstract

Computational approaches have been developed to prioritize candidate genes in disease gene identification. They are based on different pieces of evidences associating each gene with the given disease. In this study, 648 genes underlying genodermatoses have been compared to 1808 genes involved in other genetic diseases using a bioinformatic approach. These genes were studied at the structural, evolutionary and functional levels. Results show that genes underlying genodermatoses present longer CDS and have more exons. Significant differences were observed in nucleotide motif and amino-acid compositions. Evolutionary conservation analysis revealed that genodermatoses genes have less paralogs, more orthologs in Mouse and Dog and are less conserved. Functional analysis revealed that genodermatosis genes seem to be involved in immune system and skin layers. The Bayesian network model returned a rate of good classification of around 80%. This computational approach could help investigators working in the field of dermatology by prioritizing positional candidate genes for mutation screening.
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Dates and versions

hal-03491200 , version 1 (22-08-2022)

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Attribution - NonCommercial

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Lilia Romdhane, Heni Bouhamed, Kais Ghedira, Cherif Ben Hamda, Amel Louhichi, et al.. The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach. Genomics, 2020, 112 (6), pp.4232 - 4241. ⟨10.1016/j.ygeno.2020.07.009⟩. ⟨hal-03491200⟩

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