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Research PaperResearchia:202601.12273

Estimators for Substitution Rates in Genomes from Read Data

Shiv Pratap Singh Rathore

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...

Submitted: January 12, 2026Subjects: Biology; Genomics

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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Submission Info
Date:
Jan 12, 2026
Topic:
Genomics
Area:
Biology
Comments:
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