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Patient preferences in genetic newborn screening for rare diseases: study protocol.

Sylvia MartinEmanuele AngoliniJennifer AudiDr Enrico BertiniLucia Pia BrunoJoshua CoulterAlessandra FerliniFernanda FortunatoVera FrankovaNicolas GarnierÅsa GraumanEdith GrossBrett HauberMats HanssonJanbernd KirschnerFerdinand KnielingGergana KyosovksaSilvia OttombrinoAntonio NovelliRoman RamingStefaan SansenChristina SaierJorien Veldwijk
Published in: BMJ open (2024)
This study has been approved by the Erlangen University Ethics Committee (22-246_1-B), the Freiburg University Ethics Committee (23-1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University (2022-05806-01). The dissemination of the results will be ensured via scientific journal publication (open access).
Keyphrases
  • big data
  • public health
  • study protocol
  • randomized controlled trial
  • clinical trial
  • minimally invasive
  • case report
  • genome wide
  • gene expression
  • dna methylation
  • artificial intelligence
  • global health
  • data analysis