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A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
Tin Aung, Mineo Ozaki, Takanori Mizoguchi, R. Rand Allingham, Zheng Li, Aravind Haripriya, S Nakano, Steffen Uebe, Jeffrey M. Harder, Anita Sook Yee Chan, Mei Lee, Kathryn P. Burdon, Yury S. Astakhov, Khaled K. Abu‐Amero, Juan Carlos Zenteno, Nilgün Yıldırım, Tomasz Żarnowski, Mohammad Pakravan, Leen Abu Safieh, Liyun Jia, Ya Xing Wang, Susan Williams, Daniela Paoli, Patricio G. Schlottmann, Lulin Huang, Kar Seng Sim, Jia Nee Foo, Masakazu Nakano, Yoko Ikeda, Rajesh S. Kumar, Morio Ueno, Shin-ichi Manabe, Ken Hayashi, Shigeyasu Kazama, Ryuichi Ideta, Yosai Mori, Kazunori Miyata, Kazuhisa Sugiyama, Tomomi Higashide, Etsuo Chihara, Kenji Inoue, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Makoto Aihara, Tsutomu Ōhashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Fumihiko Matsuda, Kenji Yamashiro, Norimoto Gotoh, Masahiro Miyake, Sergei Astakhov, Essam A. Osman, Saleh A. Al‐Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Sami Al Shahwan, Rhys A Fogarty, Paul Leo, Oğuz Çilingir, Mozhgan Rezaei Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Evgeny L. Akopov, Kai Yee Toh, Gareth R. Howell, Andrew Orr, Yufen Goh, Wee Yang Meah, Su Qin Peh, Ewa Kosior‐Jarecka, Urszula Łukasik, Mandy Krumbiegel, Eranga N. Vithana, Tien Yin Wong, Yutao Liu, Allison E Ashley Koch, Pratap Challa, Robyn M. Rautenbach, David A. Mackey, Alex W. Hewitt, Paul Mitchell, Jie Jin Wang, Ari Ziskind, Trevor Carmichael, Ramakrishnan Rangappa, Kalpana Narendran, Rangaraj Venkatesh, Saravanan Vijayan, Peiquan Zhao, Xueyi Chen, Dalia Guadarrama-Vallejo, Ching‐Yu Cheng, Shamira Perera, Rahat Husain, Su-Ling Ho, Ulrich-Christoph Welge-Luessen, Christian Y. Mardin, Ursula Schloetzer-Schrehardt, Axel M. Hillmer, Stefan Herms, Susanne Moebus, Markus M. Nöthen, Nicole Weisschuh, Rohit Shetty, Arkasubhra Ghosh, Yik Ying Teo, Matthew A. Brown, Ignacio Lischinsky, Jonathan G. Crowston, Michael Coote, Bowen Zhao, Jinghong Sang, Nihong Zhang, Qi Sheng You, Vera V. Vysochinskaya, Panayiota Founti, Anthoula Chatzikyriakidou, Alexandros Lambropoulos, Eleftherios Anastasopoulos, Anne L. Coleman, M. Roy Wilson, Douglas J. Rhee, Jae H. Kang, Inna May-Bolchakova, Steffen Heegaard, Kazuhiko Mori, Wallace L.M. Alward, Jost B. Jonas, Liang Xu, Jeffrey M. Liebmann, Balram Chowbay, Elke Schaeffeler, Matthias Schwab, S. Lerner, Ningli Wang, Zhenglin Yang, Paolo Frezzotti, Shigeru Kinoshita, John H. Fingert, Masaru Inatani, Kei Tashiro, André Reis, Deepak P. Edward, Louis R. Pasquale, Toshiaki Kubota, Janey L. Wiggs, Francesca Pasutto, Fotis Topouzis, Michael Dubina, Jamie E. Craig, Nagahisa Yoshimura, Periasamy Sundaresan, Simon W. M. John, Robert Ritch, Michael A. Hauser, Chiea Chuen Khor
Bibliographic record
VenueNature Genetics · 2015
Typearticle
Languageen
FieldNeuroscience
TopicGenetic Neurodegenerative Diseases
Canadian institutionsDalhousie University
FundersWellcome TrustNational Eye InstituteHoward Hughes Medical Institute
KeywordsBiologyGeneticsComputational biologyBioinformatics
Abstract
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 imitationNot 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)0.000
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.227
Threshold uncertainty score0.995
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 head0.043
GPT teacher head0.288
Teacher spread0.245 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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
Citations129
Published2015
Admission routes1
Has abstractno