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Research project

Uplifting genetic detection of rare lung diseases; a novel diagnostic pipeline utilising RNA-seq analysis

Staff

Lead researchers

Dr Claire Jackson

Principal Research Fellow
Connect with Claire

Email: C.L.JACKSON@soton.ac.uk

Other researchers

Professor John Holloway PhD, FHEA, FERS

Associate Vice-President (Interdisciplinary Research)
Research interests
  • Human genetics
  • Epigenetics
  • Respiratory Disease
Connect with John

Email: J.W.Holloway@soton.ac.uk

Professor Diana Baralle B.Sc., M.B.B.S, M.D, FRCP

Head of School
Research interests
  • RNA
  • Splicing
  • Genomics
Connect with Diana

Email: D.Baralle@soton.ac.uk

Research outputs

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletion in primary ciliary dyskinesia
Carolina Jaramillo Oquendo, Janice Coles, Lee Baker, David J. Bunyan, N. Simon Thomas, James Thompson, Gemma Fryatt, Sajida Khan, David Hunt, John Holloway, Jane S. Lucas, Diana Baralle, Woolf T. Walker & Claire Jackson, 2026, European Journal of Human Genetics
DOI: 10.21203/rs.3.rs-9545795/v1
Type: article