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Article

Whole exome sequencing in inborn errors of immunity: use the power but mind the limits.

Current opinion in allergy and clinical immunology - 1 Dec 2017

Bucciol Giorgia, Van Nieuwenhove Erika, Moens Leen, Itan Yuval, Meyts Isabelle

Abstract excerpt

PURPOSE OF REVIEW: Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. RECENT FINDINGS: The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28938278
DOI: 10.1097/ACI.0000000000000398

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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