Record W3125764410 · doi:10.2139/ssrn.3155776

Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

2018· article· de· W3125764410 on OpenAlexaff

Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan Kenna, Mike A. Nalls, Pamela Keagle, Alberto Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. A. van der Spek, Hannah A. Pliner, Bradley Smith, Giuseppe Marangi, Simon Topp, Yevgeniya Abramzon, Soragia Athina Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, F. L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella Laura Simone, Francesca Trojsi, Fabrizio Salvi, Francesco Logullo, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane Araújo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, R Myers, Hemali Phatnani, Rajeeva Musunuri, Uday S. Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex Lenail, Leandro de Araújo Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Jonathan Mill, Stephen J. Kolb, Merit Cudkowicz, Emily G. Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarú, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hesham Hamdallah, Sara Rollinson, Stuart Pickering‐Brown, Richard W. Orrell, Katie Sidle, Andrea Malaspina, John Hardy, Andrew Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna‐Yasek, Meraida Polak, Safa Al‐Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luís Muñoz-Blanco, Dena Hernández, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Stefan M. Pulst, John Ravits, Daniel J. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James R. Broach, Glenn S. Gerhard, Travis Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kévin Mouzat, Serge Lumbroso, Terry Heiman‐Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. van Es, Markus Weber, Khrista Boylan, Marka van Blitterswijk, Rosa Rademakers, Karen Morrison, A. Nazlı Başak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban‐Pérez, Alberto García‐Redondo, Ammar Al‐Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper‐Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti J. Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers

Bibliographic record

VenueSSRN Electronic Journal · 2018

Typearticle

Languagede

FieldMedicine

TopicAmyotrophic Lateral Sclerosis Research

Canadian institutionsUniversity of TorontoMcGill UniversityMontreal Neurological Institute and Hospital

Fundersnot available

KeywordsHereditary spastic paraplegiaGeneGeneticsPhenotypeBiologyMutationLoss function

DOI10.2139/ssrn.3155776

Abstract

fetched live from OpenAlex

No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

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)0.005

metaresearch head score (Gemma)0.001

Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated

Candidate categoriesMeta-epidemiology (narrow), Research integrity, Insufficient payload (model declined to judge)

Consensus categoriesInsufficient payload (model declined to judge)

DomainCandidate signal: none · Consensus signal: none

Study designCandidate signal: Bench or experimental · Consensus signal: none

GenreCandidate signal: Empirical · Consensus signal: Empirical

Teacher disagreement score0.883

Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

Category	Codex	Gemma
Metaresearch	0.005	0.001
Meta-epidemiology (narrow)	0.001	0.001
Meta-epidemiology (broad)	0.001	0.001
Bibliometrics	0.001	0.001
Science and technology studies	0.001	0.001
Scholarly communication	0.000	0.000
Open science	0.001	0.000
Research integrity	0.000	0.006
Insufficient payload (model declined to judge)	0.003	0.010

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 head0.054

GPT teacher head0.381

Teacher spread0.328 · 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