Utility of whole-genome sequencing in the clinical diagnostic of rare inherited anaemias

Eitemau Tebyg

• The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
  gan: Schwarze, K, et al.
  Cyhoeddwyd: (2019)
• Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing
  gan: Schuh, A, et al.
  Cyhoeddwyd: (2018)
• A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
  gan: Roy, N, et al.
  Cyhoeddwyd: (2016)
• Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias
  gan: Roy, N, et al.
  Cyhoeddwyd: (2018)
• Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias
  gan: Roy, N, et al.
  Cyhoeddwyd: (2019)