Difference between GT:0/1 and GT:0|1 - phased vs unphased genotype
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How are variants recorded in a VCF file?
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Interpreting a record in VCF
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Genomic VCF gVCF
Description:
Explore the intricacies of Variant Call Format (VCF) and genomic VCF (gVCF) files in this comprehensive 26-minute video tutorial. Delve into the structure and organization of VCF files, examining various fields and their significance in variant calling analysis. Learn about metadata sections, header lines, and data lines while understanding how genetic information is stored. Discover the concepts of genotypes, phased and unphased genotypes, and how to calculate alternate allele frequencies. Gain insights into recording DNA variations and interpreting VCF records. Finally, explore the differences between VCF and gVCF files, enhancing your understanding of file formats crucial for bioinformatics research and analysis.
Understanding File Formats in Bioinformatics - VCF and gVCF