<b>Discovery of Functional Genomic Variants in Orphan Genes Associated with Rare Diseases: A Case Study in LINS1</b>

<p dir="ltr">This study presents a bioinformatic analysis of genomic variants in the LINS1 gene, an orphan gene associated with autosomal recessive non-syndromic intellectual disability (MRT27). Using data from Ensembl, variants were annotated and filtered based on their functional impact, type, and allelic frequency. Results show a predominance of MODERATE impact variants (~300), primarily missense (~300), with a high proportion of rare variants. After filtering, ~18 key variants were identified, all of MODERATE impact. Advanced visualizations were generated in Python, including bar charts, histograms, and genomic maps, and a network analysis was conducted in Gephi to explore relationships between variants and annotations. This work contributes to the understanding of functional variants in orphan genes and their role in rare diseases. All code is available in a GitHub repository to promote reproducibility.<br><br></p>