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Integrative bioinformatics analysis and whole exome sequencing reveal differentially expressed genes and single nucleotide polymorphisms in Dupuytren’s contracture


Citation

Karuppiah, Thilakavathy and Arumugam, Manohar and Hwa, Ling King and Shankar, Aissvarya (2024) Integrative bioinformatics analysis and whole exome sequencing reveal differentially expressed genes and single nucleotide polymorphisms in Dupuytren’s contracture. In: 15th International Symposium of Variants in the Genome, 12-15 May. 2024, Porto, Portugal. (pp. 50-51).

Abstract

Introduction: Dupuytren's Contracture (DC) is an inherited connective tissue disorder causing abnormal thickening of the palmar fascia, leading to nodules and cords in the palm. DC is suggested to be inherited in an autosomal dominant manner with incomplete penetrance. Although many studies have been conducted to comprehend DC, to date the specific aetiology remains unclear. Thus, the objective of the present study is to identify the differentially expressed genes (DEGs) and causal variants potentially leading to the development of DC through bioinformatics analysis and whole exome sequencing (WES).


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Additional Metadata

Item Type: Conference or Workshop Item (Oral/Paper)
Divisions: Faculty of Medicine and Health Science
Publisher: Human Genome Organisation
Keywords: Dupuytren’s contracture; Whole exome sequencing; Differentially expressed genes; Integrative bioinformatics; Single nucleotide polymorphisms
Depositing User: Mr. Mohamad Syahrul Nizam Md Ishak
Date Deposited: 06 Nov 2025 02:18
Last Modified: 06 Nov 2025 02:18
URI: http://psasir.upm.edu.my/id/eprint/121551
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