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Updated: Jul 26, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Evaluation of haplotype-aware long-read error correction with hifieval
Yujie Guo1,2, Xiaowen Feng1, Heng Li1,2
1Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA, 02215.
Abstract:
The PacBio High-Fidelity (HiFi) sequencing technology produces long reads of >99% in accuracy. It has enabled the development of a new generation of de novo sequence assemblers, which all have sequencing error correction as the first step. As HiFi is a new data type, this critical step has not been evaluated before. Here, we introduced hifieval, a new command-line tool for measuring over- and under-corrections produced by error correction algorithms. We assessed the accuracy of the error correction components of existing HiFi assemblers on the CHM13 and the HG002 datasets and further investigated the performance of error correction methods in challenging regions such as homopolymer regions, centromeric regions, and segmental duplications. Hifieval will help HiFi assemblers to improve error correction and assembly quality in the long run.
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