Record W2362445007 · doi:10.1016/j.ajhg.2016.04.011

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

2016· article· en· W2362445007 on OpenAlexaff

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik, Laura M. Amendola, Paul S. Appelbaum, Jonathan S. Berg, Barbara A. Bernhardt, Leslie G. Biesecker, Sawona Biswas, Carrie L. Blout Zawatsky, Kevin M. Bowling, Kyle B. Brothers, Wylie Burke, Charlisse Caga-Anan, Arul M. Chinnaiyan, Wendy K. Chung, Ellen Wright Clayton, Gregory M. Cooper, Kelly M. East, James P. Evans, Stephanie M. Fullerton, Levi A. Garraway, Jeremy R. Garrett, Stacy W. Gray, Gail E. Henderson, Lucia A. Hindorff, Ingrid A. Holm, Michelle Lewis, Carolyn M. Hutter, Pasi A. Jänne, Steven Joffe, David Kaufman, Bartha Maria Knoppers, Barbara A. Koenig, Ian D. Krantz, Teri A. Manolio, Laurence B. McCullough, Jean E. McEwen, Amy L. McGuire, Donna M. Muzny, R Myers, Deborah A. Nickerson, Jeffrey Ou, D. Williams Parsons, Gloria M. Petersen, Sharon E. Plon, Heidi L. Rehm, J. Scott Roberts, Dan R. Robinson, Joseph S Salama, Sarah Scollon, Richard R. Sharp, Brian H. Shirts, Nancy B. Spinner, Holly K. Tabor, Peter Tarczy‐Hornoch, David L. Veenstra, Nikhil Wagle, Karen E. Weck, Benjamin S. Wilfond, Susan M. Wolf, Julia Wynn, Joon‐Ho Yu, Michelle D. Amaral, Samuel Aronson, Danielle R. Azzariti, Gregory S. Barsh, E. Martina Bebin, Barbara B. Biesecker, Brian Brown, Amber Burt, Peter H. Byers, Muge G. Calikoglu, Sara J. Carlson, Nizar Chahin, Kurt D. Christensen, Allison L. Cirino, Laura K. Conlin, David R. Crosslin, James V. Davis, Kelly Cue Davis, Matthew A. Deardorff, Batsal Devkota, Raymond De Vries, Pamela M. Diamond, Michael O. Dorschner, Noreen P. Dugan, Dmitry Dukhovny, Matthew C. Dulik, E. Andres Rivera-Munoz, Barbara J. Evans, Jessica N. Everett, Nicole Exe, Zheng Fan, Lindsay Z. Feuerman, Kelly K. Filipski, Candice R. Finnila, Kristen Fishler, Bob Ghrundmeier, Karen Giles, Marian J. Gilmore, Zahra S. Girnary, Allan Gordon, Michele C. Gornick, William M. Grady, Robert Greenwood, Amanda M. Gutierrez, Paul K. J. Han, Ragan Hart, Patrick J. Heagerty, Naomi Hensman, Susan M. Hiatt, Patricia Himes, Fuki M. Hisama, Carolyn Y. Ho, Lily Hoffman‐Andrews, Celine Hong, Martha Horike‐Pyne, Sara Chandros Hull, Seema M. Jamal, Brian C. Jensen, Jennifer J. Johnston, Dean Karavite, Tia L. Kauffman, Dave Kaufman, Whitley V. Kelley, Jerry H. Kim, Christine Kirby, William M. P. Klein, Sek Won Kong, Joel B. Krier, Neil E. Lamb, Michele P. Lambert, Lan Q. Le, Matthew S. Lebo, Alexander Lee, Kaitlyn B. Lee, Niall J. Lennon, Michael C. Leo, Kathleen A. Leppig, Katie L. Lewis, Neal I. Lindeman, Nicole C. Lockhart, Bob Lonigro, Edward J. Lose, Philip J. Lupo, Laura Lyman Rodriguez, Frances L. Lynch, Kalotina Machini, Calum A. MacRae, Daniel S. Marchuk, Josue Martinez, Aaron J. Masino, Heather M. McLaughlin, Carmit K. McMullen, Piotr A. Mieczkowski, Jeff F. Miller, Victoria A. Miller, Rajen Mody, Sean D. Mooney, Elizabeth Moore, Elissa Morris, Michael F. Murray, David Ng, Nelly Oliver, William H. Parsons, Donald L. Patrick, Jeffrey W. Pennington, Denise Perry, K. A. Porter, Bradford C. Powell, Sumit Punj, Carmen Radecki Breitkopf, Robin Raesz-Martinez, Wendy H. Raskind, Dean A. Reigar, Jacob A. Reiss, Carla A. Rich, C. Sue Richards, Christine Rini, Scott Alan Roberts, Peggy D. Robertson, Jill O. Robinson, Marguerite Robinson, Myra I. Roche, Edward J. Romasko, Elisabeth A. Rosenthal, Maria I. Scarano, Jennifer Schneider, Christine E. Seidman, Bryce A. Seifert, Lynette M. Sholl, Javed Siddiqui, Elian Silverman, Shirley Simmons, Janae V. Simons, Debra Skinner, Elena M. Stoffel, Natasha T. Strande, Shamil Sunyaev, Virginia P. Sybert, Jennifer M. Taber, Deanne Taylor, Christian R. Tilley, Ashley N. Tomlinson, Susan Brown Trinidad, Ellen Tsai, Peter A. Ubel, Eliezer M. Van Allen, Jason L. Vassy, Pankaj Vats, Victoria L. Vetter, Sarah A. Walser, Rebecca Walsh, Allison Werner‐Lin, Jana Whittle, Ben Wilfond, Kirk C. Wilhelmsen, Yaping Yang, Brian J. Zikmund‐Fisher

Bibliographic record

VenueThe American Journal of Human Genetics · 2016

Typearticle

Languageen

FieldBiochemistry, Genetics and Molecular Biology

TopicGenomics and Rare Diseases

Canadian institutionsMcGill University

FundersNational Cancer InstituteNational Center for Advancing Translational SciencesNational Human Genome Research InstituteNational Institute of Mental HealthNational Institute on Aging

KeywordsHuman geneticsExome sequencingMultidisciplinary approachGenomicsPrecision medicineExomeMedicineBiologyGeneticsGenomePolitical sciencePathology

DOI10.1016/j.ajhg.2016.04.011

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 machine prediction

Teacher imitation

Not 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)0.289

metaresearch head score (Gemma)0.341

Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated

Candidate categoriesMetaresearch

Consensus categoriesMetaresearch

DomainCandidate signal: Methods · Consensus signal: none

Study designCandidate signal: Not applicable · Consensus signal: Not applicable

GenreCandidate signal: Empirical · Consensus signal: none

Teacher disagreement score0.711

Threshold uncertainty score0.877

Distilled classifier scores by category (both heads)

Category	Codex	Gemma
Metaresearch	0.289	0.341
Meta-epidemiology (narrow)	0.001	0.001
Meta-epidemiology (broad)	0.002	0.001
Bibliometrics	0.006	0.006
Science and technology studies	0.003	0.004
Scholarly communication	0.013	0.006
Open science	0.008	0.024
Research integrity	0.009	0.010
Insufficient payload (model declined to judge)	0.011	0.004

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 head0.183

GPT teacher head0.439

Teacher spread0.256 · 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