Скачать или смотреть File Formats #7: VCF

In this video, I explain the VCF file format — a standard for storing sequence variation information such as single base substitutions, insertions, deletions and complex variants.

📄 Learn More
🔗 Format → https://samtools.github.io/hts-specs/...

💾 Reference Databases
🔗 Ensembl→ https://asia.ensembl.org/index.html
🔗 Ensembl Genomes → https://ensemblgenomes.org/
🔗 dbSNP → https://www.ncbi.nlm.nih.gov/snp/
🔗 ClinVar → https://www.ncbi.nlm.nih.gov/clinvar/

🧬 Infectious Disease Study
🔗 Research article → https://www.nature.com/articles/s4146...

💻 Variant Calling Tools
🔗 DeepVariant→ https://github.com/google/deepvariant
🔗 GATK → https://github.com/broadinstitute/gatk
🔗 Freebayes → https://github.com/freebayes/freebayes
🔗 Mutect2 → Implemented in GATK package

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