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The whole point behind Next Generation Sequencing is to get a lot of redundant and cheap raw data, but with some errors. This way you sequence the same base of
by otherme123 4y ago
The whole point behind Next Generation Sequencing is to get a lot of redundant and cheap raw data, but with some errors. This way you sequence the same base of the genome say 10 times or more. If 9 of them are the same as the reference, and 1 is another base (and this base is low quality), the Variant Caller can be confident that was a sequencing error, and the position is the same base as the reference. But if you have 5 reference and 5 of other base, it's probably heterozigous for that position. If you have more of other base, is homozigous for that other base.