High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Grants

Funding Acknowledgements

We thank S. Tregoning, A. Laskowski and S. Smith for assistance with enzyme assays and DNA preparation, M. McKenzie and M. Ryan for the NDUFAF2 antibody, J. Boehm for the lentiviral expression vector, S. Flynn for assistance with human subjects protocols, R. Onofrio for designing PCR primers, K. Ardlie and S. Mahan for assistance in DNA sample preparation, J. Wilkinson and L. Ambrogio for Illumina sequence project management, T. Fennel for sequence alignment, L. Ziaugra for genotyping assistance, M. Cabili for tool evaluation, J. Flannick for assistance with pooled sequence analysis, I. Adzhubei and S. Sunyaev for PolyPhen-2.0 predictions, M. DePristo, E. Banks and A. Sivachenko for advice on sequence data analysis, M. Garber for assistance with evolutionary conservation analyses, J. Pirruccello, R. Do and S. Kathiresan for data and analysis of control data, and the many physicians who referred subjects and assisted with these studies. This work was supported by a grant (436901) and Principal Research Fellowship from the Australian National Health & Medical Research Council awarded to D. R. T., an Australian Postgraduate Award to E. J. T. and a grant from the US National Institutes of Health (GM077465) to V. K. M. The authors wish to dedicate this article to the memory of our co-author Denise Kirby, an outstanding scientist and dear colleague who died during the preparation of this manuscript.