Welcome to VCF2ClinicalReport, your go-to solution for converting Variant Call Format (VCF) files into comprehensive PDF clinical reports, meticulously crafted to meet the rigorous standards set by the American College of Medical Genetics and Genomics (ACMG). Dive into a step-by-step journey of variant interpretation and clinical insights with my Python-based Jupyter Notebook scripts, unveiling the intricacies of genetic analysis.
- Python Jupyter Notebook Scripts: Explore my thought processes step by step through Python scripts embedded in Jupyter Notebooks, revealing the nuances of variant interpretation.
- ACMG Compliance: Ensure adherence to ACMG guidelines for accurate and reliable genetic variant interpretation.
- Orphanet Annotation: Leverage annotations from Orphanet to focus on rare diseases, enriching clinical insights.
- Coding Sequence Variants: Identify variants impacting coding sequences for precise clinical interpretation.
- Customizable SNP Association: Tailor associated SNPs and annotation types to your specific research or clinical requirements.
- Dependency on ReportLab: Generate PDF reports seamlessly with the Python Package ReportLab, ensuring professional and polished outputs.
- Functional Annotation Tools: Utilize GATK Funcotator and InterVar, along with ANNOVAR, for functional annotation and ACMG interpretation, enriching your analyses.
- Base Reference Genome: Utilize hg38 as the base reference human genome for accurate variant annotation.
VCF2ClinicalReport provides the flexibility to adjust the number of associated SNPs and annotation types, streamlining reporting while managing large datasets effectively. Unlock deeper insights into genetic variants and streamline your clinical workflows with VCF2ClinicalReport. Happy analyzing! 🧬💻