Publications by authors named "T H Heupink"

Implementation of whole genome sequencing (WGS) for patient care is hindered by limited Mycobacterium tuberculosis (Mtb) in clinical specimens and slow Mtb growth. We evaluated droplet multiple displacement amplification (dMDA) for amplification of minute amounts of Mtb DNA to enable WGS as an alternative to other Mtb enrichment methods. Purified genomic Mtb-DNA (0.

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Background: Whole genome sequencing (WGS) holds great potential for the management and control of tuberculosis. Accurate analysis of samples with low mycobacterial burden, which are characterized by low (<20x) coverage and high (>40%) levels of contamination, is challenging. We created the MAGMA (Maximum Accessible Genome for Mtb Analysis) bioinformatics pipeline for analysis of clinical Mtb samples.

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Following a huge global effort, the first World Health Organization (WHO)-endorsed catalogue of 17,356 variants in the Mycobacterium tuberculosis complex along with their classification as associated with resistance (interim), not associated with resistance (interim) or uncertain significance was made public In June 2021. This marks a critical step towards the application of next generation sequencing (NGS) data for clinical care. Unfortunately, the variant format used makes it difficult to look up variants when NGS data is generated by other bioinformatics pipelines.

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Article Synopsis
  • Rifampicin-resistant tuberculosis (RR-TB) is a significant health issue worldwide, and personalized treatment based on complete drug-resistance profiles is mainly practiced in wealthy countries, with low-income regions lacking access to advanced technologies like whole genome sequencing (WGS).
  • A clinical trial in South Africa aims to evaluate a WGS-guided automated treatment strategy for RR-TB, comparing it to standard treatment protocols to determine its effectiveness and feasibility.
  • The trial will assess various outcomes, including the speed of improvement in patients, cure and relapse rates, safety, and cost-effectiveness, ultimately aiming to gather evidence that supports the integration of WGS technology into routine care for RR-TB in low and middle-income countries.
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