DIAH KURNIASIH, NIM. 2021050009 (2025) IDENTIFIKASI VARIASI DAN EKPRESI GEN YANG BERHUBUNGAN DENGAN AMYOTROPHIC LATERAL SCLEROSIS (ALS) MENGGUNAKAN PENDEKATAN BIOINFORMATIKA. Skripsi thesis, UNIVERSITAS MUHAMMADIYAH GOMBONG.

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Abstract

Background: Amyotrophic Lateral Sclerosis (ALS) is a disease that disrupts human motor abilities. further studies using genomic databases to explore genetic variations and gene expression patterns more specifically to identify new risk genes. Purpose: This research aims to identify genetic variations associated with ALS and determine its susceptibility level using databases and bioinformatics methods. Method: This research used a bioinformatics approach, utilizing the GWAS catalog database, HaploReg version 4.2, the GTEx portal, and the Ensembl genome. Result: The analysis of the GWAS catalog database yielded 51 SNPs. SNPs that meet the missense criteria were found to be 4 SNPs, namely rs80265967, rs75087725, rs113247976, and rs8141797. With gene codes SOD1, KIF5A, C21ORF, and SUSD2. Conclusion: Based on the research results, 4 gencodes were found to have the highest expression levels in brain tissue, skeletal muscle, lungs, and esophagus. There is a relationship between genetic variation and the level of expression in a specific tissue. Recommendation: It is advised to continue with drug repurposing research.

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