A novel and accelerated method for integrated alignment and variant calling from short and long reads

The DNAscope Hybrid pipeline is a computationally efficient, highly accurate variant calling framework that leverages the advantages of both short- and long-read sequencing. By improving variant detection in challenging genomic regions and offering a robust solution for clinical and large-scale genomic applications, it holds significant promise for genetic disease diagnostics, population-scale studies, and personalized medicine.

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Publication Details

Journal
Frontiers in Bioinformatics
Published
2026-01-05
DOI
https://doi.org/10.3389/fbinf.2025.1691056
Citations
1
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

A novel and accelerated method for integrated alignment and variant calling from short and long reads

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Frontiers in Bioinformatics
Genomics and Phylogenetic Studies
article

A novel and accelerated method for integrated alignment and variant calling from short and long reads

Donald Freed, Hong Chen, Zhipan Li, J. Hu, Hanying Feng, Haodong Chen
article en
1 citations

Abstract

The DNAscope Hybrid pipeline is a computationally efficient, highly accurate variant calling framework that leverages the advantages of both short- and long-read sequencing. By improving variant detection in challenging genomic regions and offering a robust solution for clinical and large-scale genomic applications, it holds significant promise for genetic disease diagnostics, population-scale studies, and personalized medicine.

Frontiers in BioinformaticsVol. 5
Sentieon (United States) (US)
Openalex Percentile: Top 97%
Genomics and Phylogenetic Studies
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