Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

HIGHLIGHTS

  • who: William L. Macken from the (UNIVERSITY) have published the paper: Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing, in the Journal: (JOURNAL) of 14/03/2022
  • what: The authors show that specialist multidisciplinary analysis of WGS, following an initial u2018no primary findings` (NPF) report, improves diagnostic rates and alters management. The authors propose an integrated clinical solution for patients with NPF following WGS analysis within English national healthcare genetic services. The research presented in this Article complies with all relevant ethical regulations.
  • how: Source data are provided with this . . .

     

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