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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
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
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.
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)0.004
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 score0.246
Threshold uncertainty score0.611
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.002 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 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 head0.183
GPT teacher head0.439
Teacher spread0.256 · 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 itQuick stats
Citations164
Published2016
Admission routes1
Has abstractno