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Updated: Jul 1, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Haplotype-aware long-read error correction
Parvesh Barak1, Daniel Gibney2, Chirag Jain3
1Department of Computational and Data Sciences, Indian Institute of Science, Bangalore, Karnataka, 560012, India.
Abstract:
Error correction of long reads is an important initial step in genome assembly workflows. For organisms with ploidy greater than one, it is important to preserve haplotype-specific variation during read correction. This challenge has driven the development of several haplotype-aware correction methods. However, existing methods are based on either ad-hoc heuristics or deep learning approaches. In this paper, we introduce a rigorous formulation for this problem. Our approach builds on the minimum error correction framework used in reference-based haplotype phasing. We prove that the proposed formulation for error correction of reads in de novo context, i.e., without using a reference genome, is NP-hard. To make our exact algorithm scale to large datasets, we introduce practical heuristics. Experiments using PacBio HiFi sequencing datasets from human and plant genomes show that our approach achieves accuracy comparable to state-of-the-art methods. Implementation: https://github.com/at-cg/HALE .
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