Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review - Takeaways - MDSpire

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review

  • By

  • Morgane Gélin

  • Élise Launay

  • Nicolas Vince

  • January 7, 2026

  • 0 min

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  • 1

    Severe bacterial infections (SBIs) pose significant global health challenges, contributing to high mortality and morbidity rates.

  • 2

    Whole-exome sequencing (WES) has been utilized to identify genetic variants linked to SBI susceptibility in previously healthy patients.

  • 3

    The review included 12 studies with 694 patients, revealing diverse genetic associations with various infectious phenotypes.

  • 4

    42% of previously healthy patients with SBIs had putatively disease-causing variants in genes related to inborn errors of immunity.

  • 5

    Future research should adhere to strict guidelines and promote collaboration for larger studies to enhance statistical robustness.

Original Source(s)

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review

  • by Morgane Gélin, Élise Launay, Nicolas Vince

  • January 7, 2026

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