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File Formats #7: VCF

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Sep 21, 2025
6:22

In this video, I explain the VCF file format β€” a standard for storing sequence variation information such as single base substitutions, insertions, deletions and complex variants. πŸ“„ Learn More πŸ”— Format β†’ https://samtools.github.io/hts-specs/VCFv4.2.pdf πŸ’Ύ Reference Databases πŸ”— Ensemblβ†’ https://asia.ensembl.org/index.html πŸ”— Ensembl Genomes β†’ https://ensemblgenomes.org/ πŸ”— dbSNP β†’ https://www.ncbi.nlm.nih.gov/snp/ πŸ”— ClinVar β†’ https://www.ncbi.nlm.nih.gov/clinvar/ 🧬 Infectious Disease Study πŸ”— Research article β†’ https://www.nature.com/articles/s41467-025-56050-2 πŸ’» Variant Calling Tools πŸ”— DeepVariantβ†’ https://github.com/google/deepvariant πŸ”— GATK β†’ https://github.com/broadinstitute/gatk πŸ”— Freebayes β†’ https://github.com/freebayes/freebayes πŸ”— Mutect2 β†’ Implemented in GATK package πŸ“Ί More Genomics & Bioinformatics Videos πŸ‘‰ Subscribe for tutorials, data analysis guides, and sequencing deep dives!

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File Formats #7: VCF | NatokHD