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Record W4386640166 · doi:10.1038/s41531-023-00533-w

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

2023· article· en· W4386640166 on OpenAlexaff
Clodagh Towns, Madeleine Richer, Simona Jasaityte, Eleanor J. Stafford, Julie Joubert, Tarek Antar, Alejandro Martínez-Carrasco, Mary B. Makarious, Bradford Casey, Dan Vitale, Kristin Levine, Hampton L. Leonard, Caroline B. Pantazis, Laurel A. Screven, Dena Hernández, Claire Wegel, J Solle, Mike A. Nalls, Cornelis Blauwendraat, Andrew Singleton, Manuela Tan, Hirotaka Iwaki, Huw R. Morris, Emilia Gatto, Marcelo Kauffman, Samson Khachatryan, Zaruhi Tavadyan, Claire E. Shepherd, Julie Hunter, Kishore R. Kumar, Melina Ellis, Miguel E. Rentería, Sulev Kõks, Alexander Zimprich, Artur Francisco Schumacher Schuh, Carlos Roberto de Mello Rieder, Paula Saffie Awad, Vítor Tumas, Sarah Camargos, Edward A. Fon, Oury Monchi, Ted Fon, Benjamin Pizarro Galleguillos, Marcelo Miranda, M. Leonor Bustamante, Patricio Olguı́n, Pedro Chaná, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Gonzálo Arboleda, Jorge Orozco, Marlene Jiménez-Del-Río, Alvaro Hernández‐Flores, Mohamed Salama, Walaa A. Kamel, Yared Z. Zewde, Alexis Brice, Jean‐Christophe Corvol, Ana Westenberger, Anastasia Illarionova, Brit Mollenhauer, Christine Klein, Eva‐Juliane Vollstedt, Franziska Hopfner, Günter U. Höglinger, Harutyun Madoev, Joanne Trinh, Johanna Junker, Katja Lohmann, Lara M. Lange, Manu Sharma, Sergiu Groppa, Thomas Gasser, Zih‐Hua Fang, Albert Akpalu, Georgia Xiromerisiou, Georgios Hadjigorgiou, Ioannis Dagklis, Ioannis Tarnanas, Leonidas Stefanis, María Stamelou, Efthymios Dadiotis, Alex Medina, Germaine Hiu-Fai Chan, Nancy Y. Ip, Nelson Yuk-Fai Cheung, Phillip Chan, Xiaopu Zhou, Asha Kishore, Divya KP, Pramod Kumar Pal, Prashanth Lingappa Kukkle, Roopa Rajan, Rupam Borgohain, Mehri Salari, Andrea Quattrone, Enza Maria Valente, Lucilla Parnetti, Micol Avenali, Tommaso Schirinzi, Manabu Funayama, Nobutaka Hattori, Tomotaka Shiraishi, Altynay Karimova, Gulnaz Kaishibayeva, Cholpon Shambetova, Rejko Krüger, Ai Huey Tan, Azlina Ahmad‐Annuar, Nor Azian Abdul Murad, Shahrul Azmin, Shen‐Yang Lim, Wael Mohamed, Yi Wen Tay, Daniel Martínez-Ramírez, Mayela Rodríguez‐Violante, Paula Reyes‐Pérez, Bayasgalan Tserensodnom, Rajeev Ojha, Tim Anderson, Toni L. Pitcher, Arinola Sanyaolu, Njideka Okubadejo, Oluwadamilola O. Ojo, Jan Aasly, Lasse Pihlstrøm, Shoaib Ur-Rehman, Mario Cornejo‐Olivas, Maria Leila M. Doquenia, Raymond L. Rosales, Ángel Viñuela, Е. А. Яковенко, Bashayer Al Mubarak, Muhammad Umair, Eng-King Tan, Jia Nee Foo, Ferzana Amod, Jonathan Carr, Soraya Bardien, Beomseok Jeon, Yun Joong Kim, Esther Cubo, Ignacio Álvarez, Janet Hoenicka, Katrin Beyer, María Teresa Periñán, Pau Pástor, Sarah El-Sadig, Christiane Zweier, Paul Krack, Chin‐Hsien Lin, Hsiu-Chuan Wu, Pin‐Jui Kung, Ruey‐Meei Wu, Yih‐Ru Wu, Rim Amouri, Samia Ben Sassi, A. Nazlı Başak, Gençer Genç, Özgür Öztop Çakmak, Sibel Ertan, Alastair J. Noyce, Anette Schrag, Anthony H.V. Schapira, Camille Carroll, Claire Bale, Donald Grosset, Henry Houlden, John Hardy, Kin Y. Mok, Mie Rizig, Nicholas Wood, Nigel Williams, Olaitan Okunoye, Patrick A. Lewis, Rauan Kaiyrzhanov, Rimona S. Weil, Seth Love, Simon Stott, Simona Jasaitye, Sumit Dey, Vida Obese, Alberto J. Espay, Alyssa O’Grady, Andrew K. Sobering, Bernadette Siddiqi, Brian Fiske, Cabell Jonas, Carlos Cruchaga, Charisse Comart, Deborah A. Hall, Ejaz Shiamim, Ekemini Riley, Faraz Faghri, Geidy E. Serrano, Honglei Chen, Ignácio F. Mata, Ignacio Juan Keller Sarmiento, Jared Williamson, Jonggeol Jeff Kim, Joseph Jankovic, Joshua Shulman, Kaileigh Murphy, Karen Nuytemans, Karl Kieburtz, Katerina Markopoulou, Kenneth Marek, Lana M. Chahine, Laura Ibáñez, Laurel Screven, Lauren Ruffrage, Lisa Shulman, Luca Marsili, Maggie Kuhl, Marissa Dean, Mathew J. Koretsky, Megan J. Puckelwartz, Miguel Inca‐Martinez, Naomi Louie, Niccolò E. Mencacci, Roger L. Albin, Roy N. Alcalay, Ruth Walker, Sara Bandrés‐Ciga, Sohini Chowdhury, Sonya B. Dumanis, Steven Lubbe, Tao Xie, Tatiana Foroud, Thomas Beach, Todd Sherer, Yeajin Song, Duan Nguyen, Toan Nguyen, Masharip Atadzhanov

Bibliographic record

Venuenpj Parkinson s Disease · 2023
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsMcGill UniversityInstitut Universitaire de Gériatrie de MontréalMontreal Neurological Institute and Hospital
FundersNational Institute on AgingNational Institutes of HealthMichael J. Fox Foundation for Parkinson's ResearchU.S. Department of Health and Human Services
KeywordsParkinson's diseaseDiseaseMedicineNeuroscienceGeneticsGerontologyBiologyInternal medicine

Abstract

fetched live from OpenAlex

The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.298
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.002
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.025
GPT teacher head0.309
Teacher spread0.284 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations39
Published2023
Admission routes1
Has abstractyes

Explore more

Same venuenpj Parkinson s DiseaseSame topicParkinson's Disease Mechanisms and TreatmentsFrench-language works237,207