Information Theory of DNA Sequencing

  • Motahari A
  • Bresler G
  • Tse D
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Abstract

DNA sequencing is the basic workhorse of modern day biology and medicine. Shotgun sequencing is the dominant technique used: many randomly located short fragments called reads are extracted from the DNA sequence, and these reads are assembled to reconstruct the original sequence. A basic question is: given a sequencing technology and the statistics of the DNA sequence, what is the minimum number of reads required for reliable reconstruction? This number provides a fundamental limit to the performance of any assembly algorithm. By drawing an analogy between the DNA sequencing problem and the classic communication problem, we formulate this question in terms of an information theoretic notion of sequencing capacity. This is the asymptotic ratio of the length of the DNA sequence to the minimum number of reads required to reconstruct it reliably. We compute the sequencing capacity explicitly for a simple statistical model of the DNA sequence and the read process. Using this framework, we also study the impact of noise in the read process on the sequencing capacity.

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Authors

  • Abolfazl Motahari

  • Guy Bresler

  • David Tse

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