Variation in genome-wide mutation rates within and between human families (original) (raw)

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Acknowledgements

We would like to thank A. Kernytsky, G. McVean, T. Massingham, J. Thorne, J. Hussin, A. Motsinger, Coriell Cell Repositories and members of the 1000 Genomes analysis group for their help and support. D.F.C., S.J.L., Y.Z., C.T. and M.E.H. were funded by the Wellcome Trust (grant number 077014/Z/05/Z). J.E.M.K., F.C., Y.I., M.Z., G.A.R. and P.A. were funded by the Ministry of Development, Exploration and Innovation (grant number PSR-SIIRI-195) in Quebec and a Genome Quebec Award for Population and Medical Genomics to P.A.

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Authors and Affiliations

  1. Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.,
    Donald F Conrad, Sarah J Lindsay, Yujun Zhang, Carlos Torroja & Matthew E Hurles
  2. Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA
    Donald F Conrad
  3. Department of Pediatrics, Ste Justine Hospital Research Centre, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada
    Jonathan E M Keebler, Ferran Casals, Youssef Idaghdour, Martine Zilversmit & Philip Awadalla
  4. Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA
    Jonathan E M Keebler & Eric A Stone
  5. Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
    Mark A DePristo, Chris L Hartl, Kiran V Garimella & Mark Daly
  6. Department of Genetics, North Carolina State University, Raleigh, North Carolina, USA
    Reed Cartwright & Eric A Stone
  7. Department of Medicine, Ste Justine Hospital Research Centre, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada
    Guy A Rouleau

Consortia

the 1000 Genomes Project

Contributions

M.E.H. and P.A. conceived the study. D.F.C., J.E.M.K., M.A.D., M.D., R.C., E.A.S. and P.A. developed statistical methodologies. D.F.C., J.E.M.K., M.A.D., C.L.H., K.V.G., E.A.S., M.E.H. and P.A. analyzed the data. F.C., Y.I., G.A.R., C.T., M.Z., S.J.L. and Y.Z. generated validation data. D.F.C., P.A. and M.E.H. wrote the paper.

Corresponding authors

Correspondence toMatthew E Hurles or Philip Awadalla.

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The author declare no competing financial interests.

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

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the 1000 Genomes Project. Variation in genome-wide mutation rates within and between human families.Nat Genet 43, 712–714 (2011). https://doi.org/10.1038/ng.862

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