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Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren Linton, Bruce W. Birren, Chad Nusbaum, Michael C. Zody, Jennifer Baldwin, Keri Devon, Ken Dewar, Michael P. Doyle, William W. Fitzhugh, Roel Funke, Diane Gage, Katrina L. Harris, Andrew Heaford, John G. Howland, Lisa Kann, Jessica A. Lehoczky, R Paul Levine, Paul McEwan, Kevin McKernan, James C. Meldrim, Jill P. Mesirov, Cher Miranda, William Morris, Jerome W. Naylor, Christina Raymond, Mark Rosetti, Ralph Santos, Andrew Sheridan, Carrie Sougnez, Nicole Stange-Thomann, Nikola M. Stojanović, Aravind Subramanian, Dudley Wyman, Jane Rogers, John Sulston, R. Ainscough, Stephan Beck, David Bentley, John H. Burton, Christopher Clee, Alan Coulson, Rebecca Deadman, Panos Deloukas, Andrew Dunham, Ian Dunham, Richard Durbin, Lisa French, Darren Grafham, Simon G. Gregory, Tim Hubbard, Sean Humphray, Adrienne Hunt, Matthew C. Jones, Christine Lloyd, Amanda A. McMurray, Lucy Matthews, Simon Mercer, Sarah Milne, James C. Mullikin, Andrew J. Mungall, R. W. Plumb, Mark T. Ross, R. Shownkeen, Sarah Sims, R Waterston, Richard K. Wilson, LaDeana W. Hillier, John D. McPherson, Marco A. Marra, Elaine R. Mardis, Lucinda A. Fulton, Asif Chinwalla, Kymberlie Pepin, Warren Gish, Stephanie L. Chissoe, Michael C. Wendl, Kim D. Delehaunty, Tracie L. Miner, Andrew Delehaunty, Jason Kramer, Lisa L. Cook, Robert S. Fulton, D. Johnson, Patrick Minx, Sandra W. Clifton, Trevor Hawkins, Elbert Branscomb, Paul Predki, Paul Richardson, Sarah Wenning, Tom Slezak, Norman A. Doggett, Jan‐Fang Cheng, Anne S. Olsen, Susan Lucas, Christopher J. Elkin, Edward C. Uberbacher, M.E. Frazier, Richard A. Gibbs, Donna M. Muzny, Steven E. Scherer, John Bouck, Erica Sodergren, Kim C. Worley, Catherine Rives, James H. Gorrell, Michael L. Metzker, Susan L. Naylor, Raju Kucherlapati, David L. Nelson, George M. Weinstock, Yoshiyuki Sakaki, Asao Fujiyama, Masahira Hattori, Tetsushi Yada, Atsushi Toyoda, Takehiko Itoh, Chiharu Kawagoe, Hidemi Watanabe, Yasushi Totoki, Todd D. Taylor, Jean Weissenbach, Roland Heilig, William Saurin, François Artiguenave, Philippe Brottier, Thomas Brüls, Éric Pelletier, Catherine Robert, Patrick Wincker, André Rosenthal, Matthias Platzer, Gerald Nyakatura, Stefan Taudien, Andreas Rump, Lynn Doucette‐Stamm, Marc Rubenfield, Keith G. Weinstock, Hong Mei Lee, JoAnn Dubois, Huanming Yang, Jian Wang, Guyang Matthew Huang, Jun Gu, Leroy Hood, Lee Rowen, Anup Madan, Shizen Qin, Ronald Davis, Nancy A. Federspiel, A. Pia Abola, Michael Proctor, Bruce A. Roe, Feng Chen, Huaqin Pan, Juliane Ramser, Hans Lehrach, Richard Reinhardt, W. Richard McCombie, M. de la Bastide, Neilay Dedhia, Helmut Blöcker, Klaus Hornischer, Gabriele Nordsiek, Richa Agarwala, L. Aravind, Jeffrey A. Bailey, Alex Bateman, Serafim Batzoglou, Ewan Birney, Peer Bork, Daniel G. Brown, Christopher B. Burge, Lorenzo Cerutti, Hsiu-Chuan Chen, Deanna M. Church, Michèle Clamp, Richard R. Copley, Tobias Doerks, Sean R. Eddy, Evan E. Eichler, Terrence S. Furey, James E. Galagan, James Gilbert, Cyrus L. Harmon, Yoshihide Hayashizaki, David Haussler, Henning Hermjakob, Karsten Hokamp, Wonhee Jang, L. Steven Johnson, Thomas A. Jones, Simon Kasif, Arek Kaspryzk, Scot Kennedy, W. James Kent, Paul Kitts, Eugene V. Koonin, Ian Korf, David Kulp, Doron Lancet, Todd M. Lowe, Aoife McLysaght, Tarjei S. Mikkelsen, John V. Moran, Nicola Mulder, Victor J. Pollara, Chris P. Ponting, Greg Schuler, Jörg Schultz, Guy Slater, Arian F. A. Smit, Elia Stupka, Joseph Szustakowki, Danielle Thierry‐Mieg, Jean Thierry‐Mieg, Lukas Wagner, John Wallis, Raymond M. Wheeler, Alan J. Williams, Yuri I. Wolf, Kenneth H. Wolfe, Shiaw-Pyng Yang, Ru-Fang Yeh, Francis S. Collins, Mark S. Guyer, Jane L. Peterson, Adam L. Felsenfeld, Kris A. Wetterstrand, R Myers, Jeremy Schmutz, Mark Dickson, David R. Cox, Maynard V. Olson, Rajinder Kaul, Christopher K. Raymond, Nobuyoshi Shimizu, Kazuhiko Kawasaki, Glen A. Evans, Μαρία Αθανασίου, Roger A. Schultz, A.A.N. Patrinos, Michael J. Morgan
Bibliographic record
VenueNature · 2001
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA and protein synthesis mechanisms
Canadian institutionsnot available
FundersOffice of Experimental Program to Stimulate Competitive ResearchInstitute of Medical Science, University of TokyoMedical Research CouncilNational Yang-Ming UniversityChinese Academy of SciencesBundesministerium für Bildung und ForschungBiological and Environmental ResearchNational Natural Science Foundation of ChinaDeutsche ForschungsgemeinschaftU.S. Department of EnergyEuropean CommissionUniversity of PennsylvaniaNational Human Genome Research InstituteWellcome TrustAchievement Rewards for College Scientists FoundationInstitute of GeneticsNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Science Foundation
KeywordsHuman genomeGenomeSequence (biology)Computational biologyWhole genome sequencingBiologyDNA sequencingEvolutionary biologyData scienceGeneticsComputer scienceGene
Abstract
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
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)0.006
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.005
Threshold uncertainty score0.011
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.006 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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 head0.012
GPT teacher head0.269
Teacher spread0.257 · 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 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
Citations24,579
Published2001
Admission routes1
Has abstractyes