Bioinformatician
Cian Diagnostics • Frederick, MD
Dec 2023 - Dec 2024
Bioinformatician
Conducted comprehensive genome-wide methylation analyses and developed pipelines for metagenomics and exome sequencing data analysis.
Key Achievements
- Conducted comprehensive genome-wide methylation analyses using both ONT and Illumina platforms, enabling robust cross-platform comparisons in blood and mouth swab samples.
- Designed and developed pipeline for metagenomics data analysis for environmental and clinical samples using data from both ONT and Illumina to compare results.
- Implemented a custom in-house database using Kraken and Cerntifuge tailored to bacterial and fungal pathogens, facilitating rapid identification of over 200 clinically relevant species in metagenomic datasets.
- Developed Snakemake pipelines for efficient workflow execution and scalability in the analysis of Whole exome sequencing data from ONT and Illumina platfrom.
- Developed Variant Calling Pipeline for target enrichment long-read sequencing with adaptive sampling in exome sequencing data specifically targeting cardiac arrhythmia genes and Parkinson’s disease.
Technologies Used
Snakemake, ONT, Illumina, Python, R, Metagenomics tools, Variant calling tools