Estimators for Substitution Rates in Genomes from Read Data
Abstract
We study the problem of estimating the mutation rate between two sequences from noisy sequencing reads. Existing alignment-free methods typically assume direct access to the full sequences. We extend these methods to the sequencing framework, where only noisy reads from the sequences are observed. We use a simple model in which both mutations and sequencing errors are substitutions. We propose multiple estimators, provide theoretical guarantees for one of them, and evaluate the others through si...
Description / Details
We study the problem of estimating the mutation rate between two sequences from noisy sequencing reads. Existing alignment-free methods typically assume direct access to the full sequences. We extend these methods to the sequencing framework, where only noisy reads from the sequences are observed. We use a simple model in which both mutations and sequencing errors are substitutions. We propose multiple estimators, provide theoretical guarantees for one of them, and evaluate the others through simulations.
Source: arXiv:2601.07546v1 - http://arxiv.org/abs/2601.07546v1 PDF: https://arxiv.org/pdf/2601.07546v1 Original Link: http://arxiv.org/abs/2601.07546v1
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Jan 12, 2026
Genomics
Biology
0