Comparing assembly strategies for third-generation sequencing technologies across different genomes

The recent advent of long-read sequencing technologies, such as Pacific Biosciences (PacBio) and Oxford Nanopore technology (ONT), has led to substantial accuracy and computational cost improvements. However, de novo whole-genome assembly still presents significant challenges related to the computat...

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Detalles Bibliográficos
Autores: Espinosa García, Elena, Bautista Moreno, Rocío, Fernández Vega, Ivan, Larrosa Jiménez, Rafael, Lopez Zapata, Emilio, Plata González, Oscar Guillermo
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universitat Politècnica de Catalunya (UPC)
Repositorio:UPCommons. Portal del coneixement obert de la UPC
Idioma:inglés
OAI Identifier:oai:upcommons.upc.edu:2117/395093
Acceso en línea:https://hdl.handle.net/2117/395093
https://dx.doi.org/10.1016/j.ygeno.2023.110700
Access Level:acceso abierto
Palabra clave:Genomics
Sequence alignment (Bioinformatics)
Genome assembly
Hybrid assembly
HiFi
ONT
PacBio
Genòmica
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
Descripción
Sumario:The recent advent of long-read sequencing technologies, such as Pacific Biosciences (PacBio) and Oxford Nanopore technology (ONT), has led to substantial accuracy and computational cost improvements. However, de novo whole-genome assembly still presents significant challenges related to the computational cost and the quality of the results. Accordingly, sequencing accuracy and throughput continue to improve, and many tools are constantly emerging. Therefore, selecting the correct sequencing platform, the proper sequencing depth and the assembly tools are necessary to perform high-quality assembly. This paper evaluates the primary assembly reconstruction from recent hybrid and non-hybrid pipelines on different genomes. We find that using PacBio high-fidelity long-read (HiFi) plays an essential role in haplotype construction with respect to ONT reads. However, we observe a substantial improvement in the correctness of the assembly from high-fidelity ONT datasets and combining it with HiFi or short-reads.