20 | he/him | biotechnology senior @ Anna University
A bioinformatics project that explores clinically reported genetic variants associated with Alzheimer's disease using the ClinVar database. The project extracts variants from established Alzheimer's-associated genes, performs data preprocessing, computes custom gene prioritization metrics, and visualizes the variant landscape. Done using python libraries.
A database that integrates critical genomic information that are usually siloed across multiple public repositories, using SQLite. The databases that have been integrated include: dbSNP, for variant identity and location, ensembl, for gene mapping and descriptions, clinVar, for clinical significance and disease associations, and gnomAD, for population-specific allele frequencies
This project investigates transcriptomic differences between Early-stage and
Advanced-stage breast cancer using RNA-sequencing data from The Cancer Genome Atlas Breast Invasive
Carcinoma (TCGA-BRCA) cohort.
The study was conducted using R and Bioconductor packages including
TCGAbiolinks, DESeq2, survival, and survminer.