RAPID, FLEXIBLE, AND SCALABLE ALTERNATIVES TO CONVENTIONAL HIGH-THROUGHPUT WHOLE GENOMA SEQUENCING TO ENHANCE SURVEILLANCE OF TUBERCULOSIS TRANSMISSION

Whole genome sequencing (WGS) is essential for monitoring tuberculosis (TB) transmission, enabling precise clustering of cases. Illumina sequencing, while accurate, depends on batch processing and often introduces delays that limit timely interventions. Nanopore sequencing offers a flexible, case-by-case alternative that can accelerate genomic data availability. We prospectively applied nanopore sequencing to 33 primary cultures and 51 clinical sputa during active contact tracing. All cultures achieved optimal WGS performance (≥90% genome coverage at ≥20X), allowing integration of 27 new cases into genomic networks within the 21-day tracing window. Beyond SNP clustering, evolutionary network analysis improved interpretation of transmission dynamics, revealing ongoing chains, reactivations, and diagnostic delays. Among sputa, 31.3% achieved optimal coverage and 15.7% suboptimal results, but these were still usable through a rescue pipeline that exploited circulating marker SNPs, enabling assignment of suboptimal sequences to ongoing clusters. To accelerate responses during high-risk events, we designed a targeted amplicon-based nanopore approach focusing on cluster-defining SNPs. Using 8 marker SNPs, we tracked potential cases linked to an interterritorial cluster associated with a super-spreader, highlighting further cluster expansion without requiring full WGS. By integrating real-time nanopore sequencing, rescue pipelines, and targeted SNP-based amplicon sequencing, we demonstrate rapid, flexible, and scalable alternatives to Illumina-based high-throughput WGS. These strategies strengthen genomic epidemiology and enable more effective, timely TB control interventions.

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Publication Details

Journal
Open Respiratory Archives
Published
2026-02-01
DOI
https://doi.org/10.1016/j.opresp.2026.100551
Primary Topic
Tuberculosis Research and Epidemiology
Type
article
Field-Weighted Citation Impact
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article

RAPID, FLEXIBLE, AND SCALABLE ALTERNATIVES TO CONVENTIONAL HIGH-THROUGHPUT WHOLE GENOMA SEQUENCING TO ENHANCE SURVEILLANCE OF TUBERCULOSIS TRANSMISSION

Marta Jaquotot Herranz, Teresa Cabezas Fernández, Antonio Suárez, Miguel Martínez‐Lirola et al.
Open Respiratory Archives
Tuberculosis Research and Epidemiology
article

RAPID, FLEXIBLE, AND SCALABLE ALTERNATIVES TO CONVENTIONAL HIGH-THROUGHPUT WHOLE GENOMA SEQUENCING TO ENHANCE SURVEILLANCE OF TUBERCULOSIS TRANSMISSION

Marta Jaquotot Herranz, Teresa Cabezas Fernández, Antonio Suárez, Miguel Martínez‐Lirola, Silvia Vallejo-Godoy, Sheri M. Saleeb, Patricia Muñoz, Pilar Barroso-García, Francisca Escabias-Machuca, Linfeng Wang, Darío García de Viedma, Sergio Buenestado-Serrano, Mercedes Guida Piqueras, Begoña Santiago, Guadalupe Bernal, Laura Pérez-Lago, Marta López-LLaría
article en

Abstract

Whole genome sequencing (WGS) is essential for monitoring tuberculosis (TB) transmission, enabling precise clustering of cases. Illumina sequencing, while accurate, depends on batch processing and often introduces delays that limit timely interventions. Nanopore sequencing offers a flexible, case-by-case alternative that can accelerate genomic data availability. We prospectively applied nanopore sequencing to 33 primary cultures and 51 clinical sputa during active contact tracing. All cultures achieved optimal WGS performance (≥90% genome coverage at ≥20X), allowing integration of 27 new cases into genomic networks within the 21-day tracing window. Beyond SNP clustering, evolutionary network analysis improved interpretation of transmission dynamics, revealing ongoing chains, reactivations, and diagnostic delays. Among sputa, 31.3% achieved optimal coverage and 15.7% suboptimal results, but these were still usable through a rescue pipeline that exploited circulating marker SNPs, enabling assignment of suboptimal sequences to ongoing clusters. To accelerate responses during high-risk events, we designed a targeted amplicon-based nanopore approach focusing on cluster-defining SNPs. Using 8 marker SNPs, we tracked potential cases linked to an interterritorial cluster associated with a super-spreader, highlighting further cluster expansion without requiring full WGS. By integrating real-time nanopore sequencing, rescue pipelines, and targeted SNP-based amplicon sequencing, we demonstrate rapid, flexible, and scalable alternatives to Illumina-based high-throughput WGS. These strategies strengthen genomic epidemiology and enable more effective, timely TB control interventions.

Open Respiratory ArchivesVol. 8
Universidad Complutense de Madrid (ES), Andalusian Health Service (ES), Hospital General Universitario Gregorio Marañón (ES), London School of Hygiene & Tropical Medicine (GB), Centro de Investigación en Red en Enfermedades Cardiovasculares (ES), Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (ES), Hospital de Poniente (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Complejo Hospitalario Torrecárdenas (ES), Medical Research Network (US), University of Almería (ES), Universidad Autónoma de Madrid (ES)
Good health and well-being
Openalex Percentile: Top 57%
Tuberculosis Research and Epidemiology
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