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Human genome meeting 2016
A. K. Srivastava, Yuanyuan Wang, Raymond Y. Huang, CJ SKINNER, Tommy G. Thompson, Lucille Addison Pollard, Teresa L. Wood, Feng Luo, Robert B. Stevenson, Renato Polimanti, Joel Gelernter, Xin-Ying Lin, I. Y. Lim, Yi-Chieh Wu, Ai Ling Teh, L. Chen, I. M. Aris, Soo-Youn Soh, Mya Thway Tint, Julia L. MacIsaac, Fui W Yap, Kenneth Kwek, S. M. Saw, Michael S. Kobor, Michael J. Meaney, Keith M. Godfrey, Yap Seng Chong, Joanna D. Holbrook, Y. S. Lee, P. D. Gluckman, Neerja Karnani, Ashish Kapoor, D. Lee, Aravinda Chakravarti, Christian Maercker, Fabian Graf, Michael Boutros, Georgios Stamoulis, Federico Santoni, Periklis Makrythanasis, Michel Guipponi, Nikolaos I. Panousis, Marco Garieri, Emilie Falconnet, Christelle Borel, Stylianos E. Antonarakis, Satish Kumar, Joanne E. Curran, John Blangero, Samit Chatterjee, Jennifer A. Akiyama, Dallas R. Auer, Courtney Berrios, L Pennacchio, Tarak Donti, Gerarda Cappuccio, Marcus J. Miller, Paldeep S. Atwal, Anne Kennedy, Aaron L. Cardon, Carlos A. Bacino, Lisa Emrick, Jozef Hertecant, Fiona M. Baumer, Brenda E. Porter, Matthew N. Bainbridge, Penelope E. Bonnen, Brett H. Graham, Richard E. Sutton, Qin Sun, Sarah H. Elsea, Zhihong Hu, Jinying Zhao, Momiao Xiong, David A. Bennett, Alfredo Hidalgo‐Miranda, Sandra Romero‐Córdoba, Sergio Rodríguez‐Cuevas, Rosa Rebollar-Vega, Elda Tagliabue, Maria Iorio, Elvira D’Ippolito, S. Baroni, Bogumił Kaczkowski, Yuji Tanaka, Hideya Kawaji, Albin Sandelin, Robin Andersson, Masumi Itoh, Timo Lassmann, Yoshihide Hayashizaki, Piero Carninci, Alistair R. R. Forrest, Colin A. Semple, Elisabeth A. Rosenthal, Brian H. Shirts, Laura M. Amendola, Cecilia Gracia Gallego, Martha Horike‐Pyne, Amber Burt, Peggy D. Robertson, P. Beyers, Chris Nefcy, DL Veenstra, Fuki M. Hisama, Robin L. Bennett, Michael O. Dorschner, Deborah A. Nickerson, Joseph D. Smith, Karynne Patterson, David R. Crosslin, Rami Nassir, N. Zubair, Tom Harrison, Ulrike Peters, Gail P. Jarvik, Francesca Menghi, Koichiro Inaki, X. Woo, Pooja Kumar, Krzysztof R. Grzȩda, Ankit Malhotra, Hoon Kim, Duygu Ucar, Phung Trang Shreckengast, Krishna Karuturi, James Keck, James Chuang, E. T. Liu, B. Ji, Aaron Tyler, Guruprasad Ananda, Gregory Carter, Hamid Nikbakht, Martin Montagne, Michele Zeinieh, Aida Harutyunyan, Melissa K. McConechy, Nada Jabado, Pierre Lavigne, Jacek Majewski, Jennifer B. Goldstein, Michael J. Overman, Gauri Varadhachary, Rachna T. Shroff, Robert A. Wolff, Milind Javle, David R. Fogelman, Leny Bravo, Williams Fajardo, Henry Gómez, Carlos A. Castañeda, Christian Rolfo, Joseph A. Pinto, Kadir C. Akdemir, Lawrence S. Chin, Sara E. Patterson, Cara Statz, Susan M. Mockus, S. N. Nikolaev, X. I. Bonilla, Laurent Parmentier, Bryan H. King, Fedor Bezrukov, Gulhan Kaya, Vincent Zoete, Vladimir B. Seplyarskiy, Hayley J. Sharpe, Thomas W. McKee, Konstantin Popadin, Nicole Basset‐Séguin, Rouaa Ben Chaabene, Maria Andrianova, C Verdan, K. Grosdemange, Olga Sumara, Martin Eilers, Iannis Aifantis, Olivier Michielin, FJ de Sauvage, Somsak Likhitrattanapisal, Stephen E. Lincoln, Allison W. Kurian, Andrea Desmond, Shan Yang, Yukio Kobayashi, James M. Ford, Leif W. Ellisen, Tricia Peters, Karine Alvarez, Emporia Faith Hollingsworth, Dolores López‐Terrada, Alex Hastie, Elaine T. Lam, Thomas Anantharaman, Michael Saghbini, Han Cao, Claudia Gonzaga‐Jauregui, Lijia Ma, Alejandra King, Erika B. Rosenzweig, U.R. Krishnan, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Woo-Keun Chung, Kent W. Small, Adam P. DeLuca, F.P.M. Cremers, Richard A. Lewis, Virginie Puech, Benjamin Bakall, Rosemary Silva-Garcia, Klaus Rohrschneider, Monique Leys, Fadi Shaya, Edwin M. Stone, Nara Sobreira, François Schiettecatte, Hong‐Qing Ling, Eric Pugh, David R. Witmer, Kurt N. Hetrick, P. Zhang, Kimberly F. Doheny, David Valle, Ada Hamosh, Shalini N. Jhangiani, Wu‐Lin Charng, Wojciech Wiszniewski, Tomasz Gambin, Ender Karaca, Yavuz Bayram, Mohammad K. Eldomery, James E. Posey, HarshaVardhan Doddapaneni, Jiali Hu, V. Reid Sutton, D. M. Muzny, Eric Boerwinkle, Richard A. Gibbs, S. Shekar, William Salerno, Jeremy Bruestle, Adrian Thorogood, Bartha Maria Knoppers, Hiroki Takahashi, Kazuhiro R. Nitta, Ana Kozhuharova, Ana Maria Suzuki, Himani Sharma, Diego Cotella, Claudio Santoro, S. Zucchelli, Stefano Gustincich, J. J. Mulvihill, Gareth Baynam, William A. Gahl, Stephen C. Groft, Kenjiro Kosaki, Paul Lasko, Béla Melegh, Domenica Taruscio, Rajarshi Ghosh, Sharon E. Plon, Steven E. Scherer, Xiang Qin, Rashesh Sanghvi, Tsoyu Chiang, Donna M. Muzny, Liguo Wang, John L. Black, Richard M. Weinshilboum, Tatiana V. Karpinets, Tiffany L. Calderone, Khalida Wani, X Yu, Caitlin Creasy, Cara Haymaker, Marie‐Andrée Forget, Vivek Nanda, Jason Roszik, Jennifer A. Wargo, Lauren E. Haydu, Xiaofei Song, Alexander J. Lazar, Jeffrey E. Gershenwald, M. A. Davies, Chantale Bernatchez, Simon Woodman, Elissa J. Chesler, Todd B. Reynolds, Jason A. Bubier, Charles Phillips, Michael A. Langston, Erich J. Baker, Nan Lin, Christopher I. Amos, Vince D. Calhoun, Otto Dobretsberger, Matthias Egger, F. Leimgruber, Simon Sadedin, Alicia Oshlack, Victor Andrew A. Antonio, Naoaki Ono, Zeeshan Ahmed, Mohan Bolisetty, Saman Zeeshan, Esperanza Anguiano, Anujit Sarkar, Madhusudan R. Nandineni, Chao Zeng, Jie Shao, Tianzhu Liang, Kevin Pham, Y. Chee-Wei, Dongsheng Li, W. Lai-Ping, Duan Lian, Rick Ong Twee Hee, Yuzaimi Yunus, Farhang Aghakhanian, Siti Shuhada Mokhtar, C. V. Lok-Yung, Jong Bhak, Maude E. Phipps, Xu Shu-hua, T. Yik-Ying, Vijay Kumar, Hoh Boon‐Peng, Ian Campbell, Mary‐Anne Young, Manjari Rain, Ghulam Mohammad, Ritushree Kukreti, Qadar Pasha, Ainur Akilzhanova, C. Guelly, Zhannur Abilova, Ainur Akhmetova, Ulykbek Kairov, Slave Trajanoski, Zhaxybay Zhumadilov, Makhabbat Bekbossynova, Cassie Schumacher, Sukhinder K. Sandhu, Timothy T. Harkins, Vladimir Makarov, Rachel A. Glenn, Z. Momin, B. Dilrukshi, Hsu Chao, Brent M. Gudenkauf, R Kshitij, Joy C. Jayaseelan, Caitlin Nessner, S. Lee, K. Blankenberg, Lora Lewis, Yi Han, Huyen Dinh, S. Jireh, Kimberly Walker, Christian Buhay, X. Liu, Q. Wang, Yunan Ding, Ya Yang, Arthur L. Beaudet, Christine M. Eng, Kim C. Worley, Y. Liu, Daniel Hughes, Shwetha C. Murali, Adam C. English, Oliver Hampton, Peter A. Larsen, Christine R. Beck, M. Wang, C. Kovar, Anne D. Yoder, Stephen Richards, Jeffrey Rogers, R. Gibbs, M. Raveenedran, Chenyi Xue, Mahmoud Dahdouli, L. Cox, Guangyi Fan, Betsy Ferguson, J. Hovarth, Zackary I. Johnson, Sree Kanthaswamy, Michelle J Kubisch, Michael L. Platt, David Glenn Smith, Eric J. Vallender, Roger W. Wiseman, Jennifer E. Below, Fei Yu, Jaime Lin, Yi Zhang, Zeping Ouyang, Amy Moore, Zhonghua Wang, Jonathan N. Hofmann, Mark P. Purdue, Rachael Z. Stolzenberg‐Solomon, S. Weinstein, Demetrius Albanes, C. S. Liu, Wei‐Yi Cheng, T. T. Lin, Qing Lan, Nathaniel Rothman, Sonja Berndt, Elizabeth Chen, H. Bahrami, Ahad Khoshzaban, S. Heidari Keshal, Khawlah Alharbi, S. Myrzakhmetova, M Matar, N. Mili, Roberto Molinari, Yegang Ma, Stéphane Guerrier, Nasser A. Elhawary, Mohammad Tayeb, Neda M. Bogari, N. Qotb, Sarah A. McClymont, Paul W. Hook, Loyal A. Goff, Andrew S. McCallion, Yu Kong, J. R. Charette, Wanda L. Hicks, Jürgen Κ. Naggert, Lan Zhao, P. M. Nishina, Burhan Edrees, Mohammad Athar, Faisal A. Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Naffaa Al Harbi, R Safar, Howaida Al-Edressi, Abulkareem Anazi, N. Altayeb, Mohd Rafi Ahmed, Khawala Alansary, Anton Kratz, Pascal Béguin, Stéphane Poulain, Megumi Kaneko, C. Takahiko, Atsuko Matsunaga, Sachi Kato, Nicolas Bertin, Réjan Vigot, Charles Plessy, Thomas Launey, Dan Graur, Jens Friis-Nielsen, José M. G. Izarzugaza, Søren Brunak, Atreyi Chakraborty, Jayasri Basak, and Rajendrani Mukhopadhyay, Benjamin Soibam, Debodipta Das, Nupur Biswas, Sayantan Das, Sinjini Sarkar, Arindam Maitra, Chinmay Kumar Panda, Partha P. Majumder, Heba Morsy, Ahmed Gaballah, M Parikh Samir, Mohammed Mohammed Shamseya, Hanan Mahrous, Abeer Ghazal, Waleed Arafat, M. Hashish, Joshua J. Gruber, Natalie Jäger, Matthew Snyder, Keyur Patel, Amy B. Emerman, Noa Henig, Carolyn M. Hendrickson, Kai Zhang, Mauricio Rodríguez‐Dorantes, C. D. Cruz-Hernandez, C. D. P. Garcia-Tobilla, Susana del Rocío Solórzano-Rosales, Jingyi Chen, Robert W. Haile, Megan P. Hitchins, James D. Brooks, Silvia Jiménez‐Morales, Miguel Ramirez, José I. Núñez, Valerie Bekker, Yeny Leal, Esteban Jiménez, Adriana Medina, Jorge Mejía, V. Halytskiy, Gayle B. Collin, K. DeMauro, Ryan Hanusek, K. Belhassa, Khadija Belhassan, Laila Bouguenouch, Imane Samri, Hanane Sayel, FZ. moufid, Ihssane El Bouchikhi, S. Trhanint, Hasna Hamdaoui, I. Elotmani, I. Khtiri, Oussama Kettani, L. Quibibo, M. Ahagoud, Meriame Abbassi, Karim Ouldim, Andrey Marusin, А. Н. Корнетов, M. G. Swarovskaya, K. Vagaiceva, В. А. Степанов, Eva Maria Cutiongco de la Paz, R. Sy, Julián Nevado, Paul Ferdinand M. Reganit, Laura Santos, J D Magno, Felix Eduardo R. Punzalan, Deborah Ignacia D. Ona, E. Llanes, R. L. Santos-Cortes, Raphael Enrique Tiongco, Jaime Alfonso M. Aherrera, Lauro L. Abrahan, P. Pagauitan-Alan, Kathryn H. Morelli, J. S. Domire, Nettie K. Pyne, S. Harper, Ralph Royal Burgess, Mamdooh Gari, Ashraf Dallol, Haneen Alsehli, Abdullah Gari, M. Garí, A. A. Abuzenadah, Meredith Thomas, Mahadeo A. Sukhai, Shruti Garg, Maksym Misyura, T. Zhang, Anna Schuh, Tracy Stockley, Suzanne Kamel‐Reid, Stephen T. Sherry, Chunlin Xiao, Douglas J. Slotta, Kurt Rodarmer, Michael Feolo, Mikhail Kimelman, Georgy Godynskiy, Carroll M. O'Sullivan, Claudia Rangel‐Escareño, Héctor A. Rueda-Zárate, Iftikhar Aslam Tayubi, Reema R Mohammed, Iqbal Ike K. Ahmed, Tamar Ahmed, Sahil Seth, Samirkumar B. Amin, Xianyun Mao, Hui Sun, Roeland Verhaak, S. J. Whiite, Jesse Farek, Zachary A. Kahn, Takeya Kasukawa, Marina Lizio, Jayson Harshbarger, S. Hisashi, J. Severin, A. Imad, Seda Koç Şahin, Thomas C. Freeman, Katherine Unger Baillie, Abdel Halim Salem, Muhammad Akhtar Ali, Ahmad Ibrahim, M. Sofi Ibrahim, H. Barrera, Luis A. Garza, V. Barajas, Alfredo Ulloa‐Aguirre, David Kershenobich, Shahroj Mortaji, Pedro Guizar, Eliezer Loera, Karen Moreno, Adriana De León, Daniela Monsiváis, Jackeline Gómez, Raquel Cardiel, J. Fernández-Lopez, Vania Bonifaz-Peña, Alejandra Contreras, Linda M. Polfus, X. Wang, Vivek M. Philip, Rola Turki, Aslı Uyar, Atabey Kaygun, S. Zaman, Eladio J. Márquez, Joshy George, Christopher L. Hendrickson, D. Barry Starr, Morgan Baird, Brian Kirkpatrick, Kent J. Sheets, Rainer Nitsche, L. Prieto-Lafuente, Melissa Landrum, J. Lee, Wendy S. Rubinstein, Donna Maglott, P. K. R. Thavanati, Angeles Dios, R. E. Navarro Hernandez, M. E. Aguilar Aldrate, M. R. Ruiz Mejia, K. R. R. Kanala, Neelum Shahzad, Elisabeth Huber, A. Dan, W. Herr, G. Sprotte, Josef Köstler, Andreas Hiergeist, André Gessner, Reinhard Andreesen, Elmar Holler, A. Al‐Ashwal, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, H. Abalkhail, Ahmad F. Al-Allaf, R. Bamardadh, M. M. Kobets, Yu. N. Kobets, Євгенія Бурлака, О. В. Філіпцова, Muhammad Tasnim Mohiuddin, Akram Mohammed, Tarek Owaidah
Bibliographic record
VenueHuman Genomics · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsPrincess Margaret Cancer CentreUniversité de SherbrookeMcGill UniversityUniversity of British Columbia
FundersNestecDanone
KeywordsHuman geneticsGenome BiologyHuman genomeBiologyComputational biologyGenomeGeneticsPersonal genomicsGenomicsGene
Abstract
From the first description by Leo Kanner [1], autism has been an enigmatic neurobehavioral phenomenon. The new genetic/genomic technologies of the past decade have not been as productive as originally anticipated in unveiling the mysteries of autism. The specific etiology of the majority of cases of autism spectrum disorder (ASD) is unknown, although numerous genetic/genomic variants and alterations of diverse cellular functions have been reported. Prompted by this failure, we have investigated whether the metabolomics approach might yield results which could simultaneously lead to a blood-based screening/diagnostic test and to treatment options. Methods Plasma samples from a clinically well-defined cohort of 100 male individuals, ages 2-16+ years, with ASD and 32 age-matched typically developing (TD) controls were subjected to global metabolomic analysis.
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 machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: Other
Teacher disagreement score0.254
Threshold uncertainty score0.850
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.004 | 0.001 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.254 | 0.179 |
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 head0.013
GPT teacher head0.247
Teacher spread0.234 · 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 source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreOther
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
Citations43
Published2016
Admission routes1
Has abstractyes