Supplementary Materials

Supplementary Material for:

Quantifying prion disease penetrance using large population control cohorts

Eric Vallabh Minikel,* Sonia M. Vallabh, Monkol Lek, Karol Estrada, Kaitlin E. Samocha, J. Fah Sathirapongsasuti, Cory Y. McLean, Joyce Y. Tung, Linda P. C. Yu, Pierluigi Gambetti, Janis Blevins, Shulin Zhang, Yvonne Cohen, Wei Chen, Masahito Yamada, Tsuyoshi Hamaguchi, Nobuo Sanjo, Hidehiro Mizusawa, Yosikazu Nakamura, Tetsuyuki Kitamoto, Steven J. Collins, Alison Boyd, Robert G. Will, Richard Knight, Claudia Ponto, Inga Zerr, Theo F. J. Kraus, Sabina Eigenbrod, Armin Giese, Miguel Calero, Jesús de Pedro-Cuesta, Stéphane Haïk, Jean-Louis Laplanche, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Sabina Capellari, Piero Parchi, Anna Poleggi, Anna Ladogana, Anne H. O'Donnell-Luria, Konrad J. Karczewski, Jamie L. Marshall, Michael Boehnke, Markku Laakso, Karen L. Mohlke, Anna Kähler, Kimberly Chambert, Steven McCarroll, Patrick F. Sullivan, Christina M. Hultman, Shaun M. Purcell, Pamela Sklar, Sven J. van der Lee, Annemieke Rozemuller, Casper Jansen, Albert Hofman, Robert Kraaij, Jeroen G. J. van Rooij, M. Arfan Ikram, André G. Uitterlinden, Cornelia M. van Duijn, Exome Aggregation Consortium (EXAC), Mark J. Daly, Daniel G. MacArthur*

*Corresponding author. E-mail: eminikel{at}broadinstitute.org (E.V.M.); macarthur{at}atgu.mgh.harvard.edu (D.G.M.)

Published 20 January 2016, Sci. Transl. Med. 8, 322ra9 (2016)
DOI: 10.1126/scitranslmed.aad5169

This PDF file includes:

  • Discussion
  • Table S1. Allele counts of rare PRNP variants in 16,025 definite and probable prion disease cases in nine countries.
  • Table S2. Rare PRNP variants reported in peer-reviewed literature to cause prion disease.
  • Table S3. Allele counts of rare PRNP variants in 60,706 individuals in ExAC.
  • Table S4. Summary of rare PRNP variants by functional class in ExAC.
  • Table S5. Allele counts of 16 reportedly pathogenic PRNP variants in >500,000 23andMe research participants.
  • Table S6. Phenotypes investigated in studies in which ExAC individuals with reportedly pathogenic PRNP variants were ascertained.
  • Table S7. Inferred ancestry and codon 129 genotypes of ExAC individuals with reportedly pathogenic variants.
  • Table S8. Inferred ancestry of all ExAC individuals.
  • Table S9. Inferred ancestry of 23andMe research participants.
  • Table S10. Details of Japanese prion disease cases.
  • Table S11. Phenotypes of individuals with N-terminal PrP-truncating variants.
  • Fig. S1. Age of ExAC individuals with reportedly pathogenic PRNP variants versus all individuals in ExAC.
  • Fig. S2. Sanger sequencing results for individuals with N-terminal–truncating variants.
  • References (110179)

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