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Pedigree Analysis

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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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High-throughput Parallel Sequencing to Measure Fitness of Leptospira interrogans Transposon Insertion Mutants During Golden Syrian Hamster Infection

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Decoding the Unexpected: How Cell-Free DNA Sequencing Unveiled an Elusive Tularemia Case.

Jack R Watson¹, Rehan R Syed², Victor Manuel Salazar¹

¹Department of Adult and Family Medicine, Kaiser Permanente, Watsonville, Watsonville, CA, USA.

The Permanente Journal

|October 29, 2025

Summary

Microbial cell-free DNA (mcfDNA) sequencing successfully diagnosed typhoidal tularemia, a rare infection. This advanced molecular testing holds promise for identifying challenging zoonotic diseases missed by traditional methods.

Keywords:

California Francisella tularensis Tularemia Typhoidal microbial cell-free DNA public health surveillance tick-borne

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Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow

Published on: August 15, 2025

Area of Science:

Infectious Diseases
Microbiology
Genomics

Background:

Typhoidal tularemia, caused by *Francisella tularensis*, presents with nonspecific symptoms, complicating diagnosis.
Conventional diagnostic methods often fail to identify rare pathogens like *Francisella tularensis*.
Microbial cell-free DNA (mcfDNA) sequencing is an emerging tool for pathogen detection.

Purpose of the Study:

To highlight the diagnostic utility of mcfDNA sequencing in a case of typhoidal tularemia.
To demonstrate the potential of mcfDNA sequencing for identifying rare zoonotic infections.
To advocate for the inclusion of molecular testing in tularemia surveillance and case definitions.

Main Methods:

A case study of an 80-year-old woman with fever and encephalopathy.
In-hospital evaluation using conventional diagnostic methods.
Post-discharge mcfDNA sequencing for pathogen identification.

Main Results:

Initial in-hospital workup did not identify the causative pathogen.
mcfDNA sequencing detected *Francisella tularensis* after patient discharge.
The diagnosis of typhoidal tularemia was confirmed via mcfDNA results.

Conclusions:

mcfDNA sequencing is valuable for diagnosing rare zoonotic infections like typhoidal tularemia.
Molecular testing should be considered for updated tularemia surveillance and case definitions.
Clinicians should suspect zoonotic diseases in patients with undifferentiated fever, particularly in regions like California.