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  • VCF question regarding missing INFO or FORMAT fields

    A combination of two questions which I can't directly resolve from reading the v4.3 specifications. They're mostly hypothetical as most variants won't encounter this situation


    Question 1
    If there is no INFO information (so: column 8 in the VCF file) present for a given variant, is the column just empty or is it represented by '.' ? Not every variant needs to have the same INFO fields present, so this scenario seems plausible.

    Question 2
    If There is no FORMAT/GENOTYPE information (so: column 9 and 10 in the VCF file) present for a given variant, are both columns empty or represented by '.' ? Same as above: not every variant needs to have the same FORMAT fields present, so this scenario seems plausible.

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  • seqadmin
    Multiomics Techniques Advancing Disease Research
    by seqadmin


    New and advanced multiomics tools and technologies have opened new avenues of research and markedly enhanced various disciplines such as disease research and precision medicine1. The practice of merging diverse data from various ‘omes increasingly provides a more holistic understanding of biological systems. As Maddison Masaeli, Co-Founder and CEO at Deepcell, aptly noted, “You can't explain biology in its complex form with one modality.”

    A major leap in the field has
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    02-08-2024, 06:33 AM

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