Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines

  1. Walker, L.C.
  2. Whiley, P.J.
  3. Houdayer, C.
  4. Hansen, T.V.O.
  5. Vega, A.
  6. Santamarina, M.
  7. Blanco, A.
  8. Fachal, L.
  9. Southey, M.C.
  10. Lafferty, A.
  11. Colombo, M.
  12. De Vecchi, G.
  13. Radice, P.
  14. Spurdle, A.B.
Journal:
Human Mutation

ISSN: 1059-7794 1098-1004

Year of publication: 2013

Volume: 34

Issue: 10

Pages: 1424-1431

Type: Article

DOI: 10.1002/HUMU.22388 GOOGLE SCHOLAR