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Quantifying prion disease penetrance using large population control cohorts
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Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.
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“Access to resources that catalogue genetic variation across populations (such as ExAC and its successor gnomAD)5,6 has enabled the confident exclusion of genetic variants too common in population-level data to be plausible causes of rare, penetrant early-onset genetic diseases24.”
From A brief history of human disease genetics (2020) · cites this paper as [24]
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Metadata
- Authors
- Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., Blevins, J., Zhang, S., Cohen, Y., Chen, W., Yamada, M., Hamaguchi, T., Sanjo, N., Mizusawa, H., Nakamura, Y., Kitamoto, T., Collins, S. J., Boyd, A., Will, R. G., Knight, R., Ponto, C., Zerr, I., Kraus, T. F. J., Eigenbrod, S., Giese, A., Calero, M., de Pedro-Cuesta, J., Haïk, S., Laplanche, J.-L., Bouaziz-Amar, E., Brandel, J.-P., Capellari, S., Parchi, P., Poleggi, A., Ladogana, A., O’Donnell-Luria, A. H., Karczewski, K. J., Marshall, J. L., Boehnke, M., Laakso, M., Mohlke, K. L., Kähler, A., Chambert, K., McCarroll, S., Sullivan, P. F., Hultman, C. M., Purcell, S. M., Sklar, P., van der Lee, S. J., Rozemuller, A., Jansen, C., Hofman, A., Kraaij, R., van Rooij, J. G. J., Ikram, M. A., Uitterlinden, A. G., van Duijn, C. M., Exome Aggregation Consortium (ExAC), Daly, M. J., & MacArthur, D. G.
- Affiliations
- Broad Institute (US)
- 23andMe (United States) (US)
- National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.
- University Hospitals of Cleveland (US)
- Kanazawa University (JP)
- Tokyo Medical and Dental University (JP)
- National Center Hospital of Neurology and Psychiatry (JP)
- Jichi Medical University (JP)
- Tohoku University (JP)
- The University of Melbourne (AU)
- Western General Hospital (GB)
- University of Göttingen (DE)
- Institut für Neuropathologie (DE)
- Instituto de Salud Carlos III (ES)
- Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid 28031, Spain.
- INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, Pierre and Marie Curie University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France.
- Assistance Publique – Hôpitaux de Paris (FR)
- AP-HP, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, 75010 Paris, France.
- Centre National de la Recherche Scientifique (FR)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Istituto Superiore di Sanità (IT)
- Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA.
- University of Michigan (US)
- University of Eastern Finland (FI)
- University of North Carolina at Chapel Hill (US)
- Karolinska Institutet (SE)
- Icahn School of Medicine at Mount Sinai (US)
- Department of Epidemiology, Erasmus Medical Center (MC), Rotterdam 3000 CA, Netherlands.
- Dutch Surveillance Centre for Prion Diseases, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands.
- University Medical Center Utrecht (NL)
- Erasmus MC (NL)
- Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, Netherlands.
- Corresponding author
- Minikel, Eric Vallabh
- MacArthur, Daniel G.
- ORCID
- Minikel, Eric Vallabh
- Vallabh, Sonia M.
- Lek, Monkol
- Estrada, Karol
- Samocha, Kaitlin E.
- Sathirapongsasuti, J. Fah
- McLean, Cory Y.
- Tung, Joyce Y.
- Gambetti, Pierluigi
- Zhang, Shulin
- Chen, Wei
- Yamada, Masahito
- Hamaguchi, Tsuyoshi
- Sanjo, Nobuo
- Nakamura, Yosikazu
- Kitamoto, Tetsuyuki
- Collins, Steven J.
- Will, Robert G.
- Knight, Richard
- Zerr, Inga
- Kraus, Theo F. J.
- Giese, Armin
- Calero, Miguel
- Laplanche, Jean-Louis
- Capellari, Sabina
- Parchi, Piero
- Poleggi, Anna
- Ladogana, Anna
- Karczewski, Konrad J.
- Marshall, Jamie L.
- Boehnke, Michael
- Laakso, Markku
- Mohlke, Karen L.
- Kähler, Anna
- McCarroll, Steven
- Sullivan, Patrick F.
- Hultman, Christina M.
- Purcell, Shaun M.
- Sklar, Pamela
- Jansen, Casper
- Kraaij, Robert
- Ikram, M. Arfan
- Uitterlinden, André G.
- Daly, Mark J.
- MacArthur, Daniel G.
- Venue
- Science Translational Medicine
- Published
- 2016-01-20
- Volume
- 8
- Issue
- 322
- Pages
- 322ra9-322ra9
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC4774245
- OpenAlex
- W2252255302
- Cited by
- 442
- References
- 177
- Citations by year
- 2026: 17 · 2025: 31 · 2024: 22 · 2023: 26 · 2022: 37 · 2021: 64 · 2020: 65 · 2019: 48 · 2018: 49 · 2017: 53 · 2016: 30
- FWCI
- 31.17
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, other-oa)
- GRO (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Spiral (Imperial College London) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- NIH (U54DK105566, R01GM104371)
- Broad Institute NextGen
- Prion Alliance
- National Science Foundation Graduate Research Fellowship Program (2015214731)
- Centers for Disease Control and Prevention (UR8/CCU515004)
- Research Committee of Prion Disease and Slow Virus Infection
- Research Committee of Surveillance and Infection Control of Prion Disease of the Ministry of Health, Labour and Welfare of Japan
- Institut National de veille Sanitaire
- Robert Koch Institute/Federal Ministry of Health (1369-341)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- prion disease, prion protein gene, genetic variants, penetrance, disease susceptibility, missense mutations, truncating mutations, loss-of-function alleles, monogenic disorders
- MeSH terms
- Humans, Mutation, Prions, Risk Factors, Cohort Studies, Case-Control Studies, Prion Diseases, Penetrance, Genetic Predisposition to Disease
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