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Updated: May 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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Published on: April 4, 2018

NGS versus exome versus genome wide: Advantages? Disadvantages?

Anne Barlier1, Jérôme Bouligand2

  • 1Aix Marseille Univ, APHM, INSERM, MMG, MarMaRa institute, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France.

Annales D'Endocrinologie
|May 8, 2026
PubMed
Summary

Advancements in genomic sequencing technologies like next-generation sequencing (NGS) have revolutionized the molecular diagnosis of rare inherited diseases. This review compares Targeted Exome Sequencing (TES), Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS) for diagnosing these conditions.

Keywords:
ExomeGenomeSequencing NGS

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