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High-throughput sequencing and rare genetic diseases

P Makrythanasis1, S E Antonarakis

  • 1Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

Molecular Syndromology
|January 8, 2013
PubMed
Summary

High-throughput sequencing advances genetic disorder research and clinical diagnostics. This discussion covers technical, medical, and ethical considerations for optimal use of this powerful technology.

Keywords:
DiagnosisEthical aspectsGenetic disordersNext-generation sequencingPrenatal diagnosis

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