Hi all, I am checking if a gene which around 50k base pairs has mutation. So is that a variant from A to G? Would you please tell me how to do so? Thank you so much!
The reference sequence from GRCh38, sequenced using Illumina technology.
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$\begingroup$ Comments have been moved to chat; please do not continue the discussion here. Before posting a comment below this one, please review the purposes of comments. Comments that do not request clarification or suggest improvements usually belong as an answer, on Bioinformatics Meta, or in Bioinformatics Chat. Comments continuing discussion may be removed. $\endgroup$– gringer ♦Commented Jun 25, 2023 at 22:10
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Assuming this is a diploid genome, this looks like it could be a heterozygous variant (i.e. A is present on one chromosome, and G is present on the other chromosome).