Now at Monash Institute for Medical Research, Melbourne, VIC 3168, Australia.
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation†
Article first published online: 22 DEC 2011
© 2011 Wiley Periodicals, Inc.
Volume 33, Issue 2, pages 411–418, February 2012
How to Cite
Tucker, E. J., Mimaki, M., Compton, A. G., McKenzie, M., Ryan, M. T. and Thorburn, D. R. (2012), Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum. Mutat., 33: 411–418. doi: 10.1002/humu.21654
Communicated by Mario Tosi
- Issue published online: 12 JAN 2012
- Article first published online: 22 DEC 2011
- Accepted manuscript online: 9 NOV 2011 11:27AM EST
- Manuscript Accepted: 31 OCT 2011
- Manuscript Received: 3 JUN 2011
- Australian National Health and Medical Research Council [NHMRC] (to M.M., M.T.R., and D.R.T.)
- Ramaciotti Foundation and the James and Vera Lawson Trust (to M.M.)
- Victorian Government's Operational Infrastructure Support Program (to D.R.T.)
- NHMRC Principal Research Fellowship (to D.R.T.)
- NHMRC Career Development Award (to M.M.)
- Australian Postgraduate Award (to E.J.T.)
Additional Supporting information may be found in the online version of this article
Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.