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Harpy: a pipeline for processing haplotagging linked-read data.

Pavel V Dimens1, Ryan P Franckowiak1, Azwad Iqbal1

  • 1Department of Natural Resources and the Environment, Cornell University, Ithaca, NY 14853, United States.

Bioinformatics Advances
|June 27, 2025
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Summary
This summary is machine-generated.

Harpy is a new software pipeline designed for haplotagging, a linked-read sequencing method. It processes haplotagged data to enable phased genotypes and structural variant detection, overcoming limitations of existing pipelines.

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Area of Science:

  • Genomics and Bioinformatics
  • Molecular Biology

Background:

  • Haplotagging combines short-read sequencing cost-effectiveness with long-read haplotype information.
  • Existing analytical pipelines are not compatible with haplotagging data, limiting its application.

Purpose of the Study:

  • To introduce Harpy, a novel software pipeline for processing haplotagged linked-read data.
  • To provide a user-friendly and modular solution for the entire analysis workflow.

Main Methods:

  • Development of a modular software pipeline named Harpy.
  • Implementation of algorithms for processing raw sequence data from haplotagging.
  • Integration of tools for phased genotype and structural variant detection.

Main Results:

  • Harpy successfully processes all stages of haplotagged linked-read data.
  • The pipeline is modular and user-friendly, facilitating adoption.
  • Enables accurate phased genotype and structural variant detection from haplotagged data.

Conclusions:

  • Harpy addresses the incompatibility of existing pipelines with haplotagging data.
  • This software enhances the utility of haplotagging for genomic analysis.
  • Harpy provides a comprehensive solution for haplotagged data processing and variant discovery.