Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis (original) (raw)

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Acknowledgements

We thank the families for their participation and the EPIC study site investigators and research coordinators (Supplementary Note) for their assistance. We thank A. Bigham, S. Leal, M. Rosenfeld, B. Ramsey, N. Hamblett, K. Buckingham, M. McMillin, S. McNamara and S. Ruuska for technical assistance and helpful discussion. The authors wish to acknowledge the support of the NHLBI and the contributions of the research institutions, study investigators, field staff and study participants in creating this resource for biomedical research. Funding for GO ESP was provided by NHLBI grants RC2 HL-103010 (HeartGO), RC2 HL-102923 (Lung GO) and RC2 HL-102924 (Women's Health Initiative Sequencing Project (WHISP)). Exome sequencing was performed with support from NHLBI grants RC2 HL-102925 (BroadGO) and RC2 HL-102926 (SeattleGO). Our work was supported in part by grants from the Cystic Fibrosis Foundation (to R.L.G. (GIBSON07K0) and to M. Rosenfeld and R.L.G. (CFF EPIC09K0)), the US National Institutes of Health/National Human Genome Research Institute (5RO1 HG004316 to H.K.T.), and the Life Sciences Discovery Fund (2065508 and 0905001). K.C.B. was supported in part by the Mary Beryl Patch Turnbull Scholar Program.

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Authors and Affiliations

  1. Department of Biostatistics, University of Washington, Seattle, Washington, USA
    Mary J Emond, Tin Louie & Wei Zhao
  2. Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Julia Emerson, Holly K Tabor, Ronald L Gibson & Michael J Bamshad
  3. Center for Clinical and Translational Medicine, Seattle Children's Research Institute, Seattle, Washington, USA
    Julia Emerson
  4. Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Rasika A Mathias & Kathleen C Barnes
  5. Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
    Michael R Knowles
  6. Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
    Fred A Wright
  7. Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Mark J Rieder, Deborah A Nickerson & Michael J Bamshad
  8. Trueman-Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington, USA
    Holly K Tabor
  9. Division of Pulmonary Medicine, Seattle Children's Hospital, Seattle, Washington, USA
    Ronald L Gibson
  10. Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA
    Michael J Bamshad

Authors

  1. Mary J Emond
  2. Tin Louie
  3. Julia Emerson
  4. Wei Zhao
  5. Rasika A Mathias
  6. Michael R Knowles
  7. Fred A Wright
  8. Mark J Rieder
  9. Holly K Tabor
  10. Deborah A Nickerson
  11. Kathleen C Barnes
  12. Ronald L Gibson
  13. Michael J Bamshad

Consortia

National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project

Lung GO

Contributions

The project was conceived and experiments planned by M.J.B., M.J.E., M.R.K., K.C.B. and R.L.G. Review of phenotypes and sample collection were performed by M.J.B., M.J.E., R.L.G., J.E. and M.R.K. Experiments were performed by M.J.R. and D.A.N. Regulatory review and guidance was provided by H.K.T. Data analysis was performed by M.J.E., J.E., T.L., F.A.W., W.Z. and R.A.M. The manuscript was written by M.J.B., M.J.E. and R.L.G. All aspects of the study were supervised by M.J.B., M.J.E. and R.L.G.

Corresponding authors

Correspondence toMary J Emond or Michael J Bamshad.

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Competing interests

The authors declare no competing financial interests.

Additional information

A full list of members and their affiliations is provided in the Supplementary Note.

A full list of members and their affiliations is provided in the Supplementary Note.

Supplementary information

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Emond, M., Louie, T., Emerson, J. et al. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.Nat Genet 44, 886–889 (2012). https://doi.org/10.1038/ng.2344

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