In Sanger sequencing chromatograms, what does a broad, double-peak pattern beneath a single nucleotide position typically indicate?
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Correct answer: A heterozygous insertion/deletion (indel)
A heterozygous indel causes a frameshift in the sequencing reaction. After the site of the indel, the two alleles are out of sync, resulting in overlapping, double-peak traces (mixed signal) that appear as noise. This often requires cloning or alternative assays to resolve.
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