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Updated: Nov 15, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

Aideen M McInerney-Leo1, Emma L Duncan2

  • 1Dermatology Research Centre, University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.

Frontiers in Endocrinology
|March 8, 2021
PubMed
Summary

Massively parallel sequencing (MPS) has revolutionized gene discovery, accelerating the identification of disease-related genes. This powerful technology, including whole exome sequencing and whole genome sequencing, offers new diagnostic capabilities and insights.

Keywords:
gene discoverymassively parallel sequencingrare genetic bone disorderskeletal dysplasiaswhole exome sequencing

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