Hi, I am Gurpreet Kaur, a Bioinformatics & Computational Genomics Scientist ๐งฌ with 14+ years of experience in the area of bioinformatics including leading, managing and analyzing bioinformatics and genomics/multi-omics projects, transforming complex datasets into actionable insights across academia and clinical research ๐ป.
- Omics data analysis and visualization: Upstream and Downstream
- Causal variant discovery (germline and somatic) and variant curation acc. to ACMG guidelines | Genetic modifiers identification | Case-by-case | Cohort
- Differential Gene Expression Analysis | Functional Enrichment Analysis | Network Analysis | RNA Splicing | RNA-Fusion Analysis
- Conceptualization and leading web application development
- Cystic Fibrosis (Project lead)
- Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis
- Implementing polygenic score catalog calculator for identifying genetic modifiers in cystic fibrosis
- Unraveling the complexity of cystic fibrosis: genetic modifiers and their roles in cystic fibrosis pathogenesis
- Muscular Dystrophies (Project lead)
- Generation and characterization of a novel XMEA mouse model and pharmacological evaluation of autophagy antagonists
- Computational workflow of RNA-Seq-based diagnostics for rare, undiagnosed and misdiagnosed diseases: A Case Study
- DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants
- Pediatric Thyroid Cancer (Project lead)
- Neurofibromatosis
- DITTO4NF: In silico classification and prioritization of likely pathogenic variants for NF1 using explainable machine learning
- Won challenge#2 as a team "DITTO4NF" on "Prioritizing likely pathogenic NF1 germline variants for Neurofibromatosis" at Hack4NF Hackathon by Children's Tumor Foundation, USA. Also won two other prizes: best use of PMP platform and incubation prize
- Chorioangiomas (placenta tumor): Health Equity Award as a team "BirthSeq-AI" on โDevelopment of an AI-based approach to better understand chorangiomas by studying placental heterogeneityโ, AI against Cancer Data Science Hackathon, UAB
- Hepatocellular Carcinoma: Unique Somatic Mutational Landscape in Cirrhotic-Like (Cirrhotomimetic) Hepatocellular Carcinoma
- Pediatric Cancer Cardiotoxicity
- Amyotrophic Lateral Sclerosis (ALS)
- Prader-Willi Syndrome (PWS)
- Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)
- Workflow Manager & Pipelines: Nextflow-based pipelines on High-Performance Computing (HPC) cluster
- Statistics & Visualization: R packages - DESeq2 | limma | ggplot2 | ComplexHeatmap | EnhancedVolcano | UpsetR
- Interactive Visualization: R packages - InteractiveComplexHeatmap | Shiny
- Functional Enrichment Analysis: g:Profiler | Metascape | enrichR
- Network Analysis: Cytoscape | BioNERO R package | STRING
- Variant Analysis: Varsome | Genome Aggregation Database (gnomAD) | ClinVar | DISGENET