DNA Sequencing · Pathology

What is the primary bioinformatic challenge presented by homopolymer regions in Ion Torrent sequencing data?

  1. Increased frequency of G>C transversions
  2. Misalignment due to lack of fluorescent signal
  3. Errors in counting the homopolymer length
  4. Inability to sequence the reverse strand
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Correct answer: Errors in counting the homopolymer length

Ion Torrent sequencing detects hydrogen ions released during nucleotide incorporation. In homopolymer stretches, multiple nucleotides are incorporated in a single flow, and the signal is proportional to the number of incorporated bases. This often leads to insertion/deletion errors in accurately counting the length of the homopolymer.

Difficulty: Medium Question 14 of 20

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