Duplication Distance to the Root for Binary Sequences

TL;DR

This paper investigates the tandem duplication distance from binary sequences to their roots, establishing linear bounds for exact duplications and a phase transition for approximate duplications at a critical error rate.

Contribution

It provides the first rigorous analysis of the duplication distance to the root for binary sequences, including bounds and phase transition phenomena.

Findings

Maximum exact duplication distance grows linearly with sequence length.

Approximate duplication distance exhibits a sharp transition at a 50% error rate.

Results are relevant for understanding genomic tandem duplication mutations.

Abstract

We study the tandem duplication distance between binary sequences and their roots. In other words, the quantity of interest is the number of tandem duplication operations of the form $\seq x = \seq a \seq b \seq c \to \seq y = \seq a \seq b \seq b \seq c$, where $\seq x$ and $\seq y$ are sequences and $\seq a$, $\seq b$, and $\seq c$ are their substrings, needed to generate a binary sequence of length $n$ starting from a square-free sequence from the set $\{0,1,01,10,010,101\}$. This problem is a restricted case of finding the duplication/deduplication distance between two sequences, defined as the minimum number of duplication and deduplication operations required to transform one sequence to the other. We consider both exact and approximate tandem duplications. For exact duplication, denoting the maximum distance to the root of a sequence of length $n$ by $f(n)$, we prove that $f(n)=\Theta(n)$. For the case of approximate duplication, where a $\beta$-fraction of symbols may be duplicated incorrectly, we show that the maximum distance has a sharp transition from linear in $n$ to logarithmic at $\beta=1/2$. We also study the duplication distance to the root for sequences with a given root and for special classes of sequences, namely, the de Bruijn sequences, the Thue-Morse sequence, and the Fibbonaci words. The problem is motivated by genomic tandem duplication mutations and the smallest number of tandem duplication events required to generate a given biological sequence.