NDLI: GoldPolish-target: targeted long-read genome assembly polishing

Content Provider	Springer Nature : BioMed Central
Author	Zhang, Emily Coombe, Lauren Wong, Johnathan Warren, René L. Birol, Inanç
Abstract	Background Advanced long-read sequencing technologies, such as those from Oxford Nanopore Technologies and Pacific Biosciences, are finding a wide use in de novo genome sequencing projects. However, long reads typically have higher error rates relative to short reads. If left unaddressed, subsequent genome assemblies may exhibit high base error rates that compromise the reliability of downstream analysis. Several specialized error correction tools for genome assemblies have since emerged, employing a range of algorithms and strategies to improve base quality. However, despite these efforts, many genome assembly workflows still produce regions with elevated error rates, such as gaps filled with unpolished or ambiguous bases. To address this, we introduce GoldPolish-Target, a modular targeted sequence polishing pipeline. Coupled with GoldPolish, a linear-time genome assembly algorithm, GoldPolish-Target isolates and polishes user-specified assembly loci, offering a resource-efficient means for polishing targeted regions of draft genomes. Results Experiments using Drosophila melanogaster and Homo sapiens datasets demonstrate that GoldPolish-Target can reduce insertion/deletion (indel) and mismatch errors by up to 49.2% and 55.4% respectively, achieving base accuracy values upwards of 99.9% (Phred score Q > 30). This polishing accuracy is comparable to the current state-of-the-art, Medaka, while exhibiting up to 27-fold shorter run times and consuming 95% less memory, on average. Conclusion GoldPolish-Target, in contrast to most other polishing tools, offers the ability to target specific regions of a genome assembly for polishing, providing a computationally light-weight and highly scalable solution for base error correction.
Related Links	https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-025-06091-7.pdf
Ending Page	13
Page Count	13
Starting Page	1
File Format	HTM / HTML
ISSN	14712105
DOI	10.1186/s12859-025-06091-7
Journal	BMC Bioinformatics
Issue Number	1
Volume Number	26
Language	English
Publisher	BioMed Central
Publisher Date	2025-03-07
Access Restriction	Open
Subject Keyword	Bioinformatics Microarrays Computational Biology Computer Appl. in Life Sciences Algorithms Genome assembly polishing De novo genome assembly Long reads Next-generation sequencing Computational Biology/Bioinformatics
Content Type	Text
Resource Type	Article
Subject	Molecular Biology Biochemistry Computer Science Applications Applied Mathematics Structural Biology
Journal Impact Factor	2.9/2023
5-Year Journal Impact Factor	3.6/2023

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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