File Formats #7: VCF
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. π Learn More π Format β https://samtools.github.io/hts-specs/VCFv4.2.pdf πΎ Reference Databases π Ensemblβ https://asia.ensembl.org/index.html π Ensembl Genomes β https://ensemblgenomes.org/ π dbSNP β https://www.ncbi.nlm.nih.gov/snp/ π ClinVar β https://www.ncbi.nlm.nih.gov/clinvar/ 𧬠Infectious Disease Study π Research article β https://www.nature.com/articles/s41467-025-56050-2 π» Variant Calling Tools π DeepVariantβ https://github.com/google/deepvariant π GATK β https://github.com/broadinstitute/gatk π Freebayes β https://github.com/freebayes/freebayes π Mutect2 β Implemented in GATK package πΊ More Genomics & Bioinformatics Videos π Subscribe for tutorials, data analysis guides, and sequencing deep dives!
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