哈比：一种用于处理单倍型标记连接读段数据的流程。

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

作者信息

Dimens Pavel V, Franckowiak Ryan P, Iqbal Azwad, Grenier Jennifer K, Munn Paul R, Therkildsen Nina Overgaard

机构信息

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

Genomics Innovation Hub, Biotechnology Resource Center, Cornell University, Ithaca, NY 14853, United States.

出版信息

Bioinform Adv. 2025 Jun 5;5(1):vbaf133. doi: 10.1093/bioadv/vbaf133. eCollection 2025.

DOI:10.1093/bioadv/vbaf133

PMID:40575478

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12198493/

Abstract

MOTIVATION

Haplotagging is a method for linked-read sequencing, which leverages the cost-effectiveness and throughput of short-read sequencing while retaining part of the long-range haplotype information captured by long-read sequencing. Despite its utility and advantages over similar methods, existing linked-read analytical pipelines are incompatible with haplotagging data.

RESULTS

We describe Harpy, a modular and user-friendly software pipeline for processing all stages of haplotagged linked-read data, from raw sequence data to phased genotypes and structural variant detection.