English

Incorporating indel channels into average-case analysis of seed-chain-extend

Data Structures and Algorithms 2025-12-08 v1 Quantitative Methods

Abstract

Given a sequence s1s_1 of nn letters drawn i.i.d. from an alphabet of size σ\sigma and a mutated substring s2s_2 of length m<nm < n, we often want to recover the mutation history that generated s2s_2 from s1s_1. Modern sequence aligners are widely used for this task, and many employ the seed-chain-extend heuristic with kk-mer seeds. Previously, Shaw and Yu showed that optimal linear-gap cost chaining can produce a chain with 1O(1m)1 - O\left(\frac{1}{\sqrt{m}}\right) recoverability, the proportion of the mutation history that is recovered, in O(mn2.43θlogn)O\left(mn^{2.43\theta} \log n\right) expected time, where θ<0.206\theta < 0.206 is the mutation rate under a substitution-only channel and s1s_1 is assumed to be uniformly random. However, a gap remains between theory and practice, since real genomic data includes insertions and deletions (indels), and yet seed-chain-extend remains effective. In this paper, we generalize those prior results by introducing mathematical machinery to deal with the two new obstacles introduced by indel channels: the dependence of neighboring anchors and the presence of anchors that are only partially correct. We are thus able to prove that the expected recoverability of an optimal chain is 1O(1m)\ge 1 - O\Bigl(\frac{1}{\sqrt{m}}\Bigr) and the expected runtime is O(mn3.15θTlogn)O(mn^{3.15 \cdot \theta_T}\log n), when the total mutation rate given by the sum of the substitution, insertion, and deletion mutation rates (θT=θi+θd+θs\theta_T = \theta_i + \theta_d + \theta_s) is less than 0.1590.159.

Keywords

Cite

@article{arxiv.2512.05247,
  title  = {Incorporating indel channels into average-case analysis of seed-chain-extend},
  author = {Spencer Gibson and Yun William Yu},
  journal= {arXiv preprint arXiv:2512.05247},
  year   = {2025}
}

Comments

25 pages (10 page main text + 2 page biblio + 13 page appendix); conference submission