Bioinformatics Scientist | Metropolis Healthcare | AIIMS Delhi
📧 bioinfosourabh@gmail.com
🌐 LinkedIn • ORCID
📸 Outside of research, I also pursue photography/filmaking .
I specialize in high-throughput genomic analysis, precision diagnostics, and cloud-native bioinformatics. My work spans the development of scalable pipelines for whole exome/genome sequencing, machine learning models for variant prioritization, and integrative multi-omics frameworks for pediatric tumors and rare genetic disorders.
- Computational Genomics: WES, WGS, CNV/SV detection, somatic/germline variant calling
- NGS Pipeline Development: Nextflow, Docker/Singularity, AWS, HPC environments
- Machine Learning in Genomics: XGBoost, GNNs, Deep Learning, AI-based variant scoring
- Structural Bioinformatics: Molecular dynamics (GROMACS), mutational modeling, docking
- Multi-Omics Integration: scRNA-Seq, RNA-Seq, 16S metagenomics, ChIP-Seq
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TrioExome-Analysis:
Clinical pipeline for trio-based whole exome sequencing with automated annotation and priortization. -
Variant-Prioritizer:
Framework for deleterious variant classification integrating CADD, SIFT, and dbNSFP. -
WGS-AMR:
Whole genome sequencing pipeline for identifying antimicrobial resistance markers. -
Single-Cell-Analysis:
Single Cell Data Analysis Workflow using the Seurat package
• Kumar, Sourabh, et al. "Exploring Familial Hypospadias: Genetic Insights from Copy Number Variants in a Quad Family." (2024). [https://doi.org/10.21203/rs.3.rs-4843906/v1]
• Phugat, S., Sharma, J., Kumar, S., Jain, V., Dhua, A. K., Yadav, D. K., ... & Goel, P. (2024). Genetic landscape of congenital pouch colon: systematic review and functional enrichment study. Pediatric Surgery International, 40(1), 314.
• Goel, P., Sharma, M., Kaushik, H., Kumar, S., Singh, H., Jain, V., ... & Agarwala, S. (2024). Genetic Markers of Spina Bifida in an Indian Cohort. Journal of Indian Association of Pediatric Surgeons, 29(5), 529-535.
• Sharma, J., Sharma, M., Kumar, S., Kaushik, H., Pandey, H., Lal, D., ... & Goel, P. (2025). Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance. Journal of Indian Association of Pediatric Surgeons, 30(2), 163-169.
• Kumar, S., Sharma, J., Sardar, R., Jain, V., Dhua, A. K., Yadav, D. K., ... & Goel, P. (2025). KMT2C Polymorphism in Familial Hypospadias. Indian Journal of Pediatrics, 1-3
• Goel, Prabudh, et al. "Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications". Journal of Indian Association of Pediatric Surgeons
• Kumar, Sourabh, et al. "Novel CTNNB1 Gene Mutations Reveal Critical Pathogenic Mechanisms in Pediatric Hepatoblastoma". Pediatric Surgery International
• Book Chapter: "Deep-genomics: Deep Learning Based Analysis of Genome Sequenced Data for Identification of Gene Alternation" for a book entitled “Artificial Intelligence (AI) in Cell and Genetic Engineering” (https://www.springer.com/series/7651), published by Springer Protocols.
Feel free to connect .
📬 bioinfosourabh@gmail.com