MétaCan
Menu
Back to cohort
Record W2058401000 · doi:10.1038/nature02168

The International HapMap Project

2003· article· en· W2058401000 on OpenAlexafffund
Richard A. Gibbs, John W. Belmont, Paul Hardenbol, T. D. Willis, Fuli Yu, Huanming Yang, Wei Huang, Bin Liu, Yan Shen, Paul Kwong Hang Tam, Mary Miu Yee Waye, J. Tze‐Fei Wong, Changqing Zeng, Qingrun Zhang, Mark S. Chee, Luana Galver, Semyon Kruglyak, Sarah S. Murray, Arnold Oliphant, Alexandre Montpetit, Thomas J. Hudson, Fanny Chagnon, Vincent Ferretti, Martin Leboeuf, Michael Phillips, Andrei Verner, Shenghui Duan, Denise L. Lind, Raymond D. Miller, John P. Rice, Nancy L. Saccone, Patricia Taillon‐Miller, Ming Xiao, Yusuke Nakamura, Akihiro Sekine, Koki Sorimachi, Toshihiro Tanaka, Yoïchi Tanaka, Tatsuhiko Tsunoda, Eiji Yoshino, David Bentley, Panos Deloukas, Sarah Hunt, Don Powell, Houcan Zhang, Ichiro Matsuda, Yoshimitsu Fukushima, Darryl Macer, Eiko Suda, Charles N. Rotimi, Clement Adebamowo, Toyin Aniagwu, Olayemi Matthew, Chibuzor Nkwodimmah, Mark Leppert, Missy Dixon, Fiona Cunningham, Ardavan Kanani, Guðmundur Á. Þórisson, Aravinda Chakravarti, Peter E. Chen, David J. Cutler, Carl Kashuk, Peter Donnelly, Jonathan Marchini, Gil McVean, Simon Myers, Gonçalo R. Abecasis, Andrew P. Morris, Bruce S. Weir, James C. Mullikin, Stephen T. Sherry, Michael Feolo, Mark Daly, Ren-Zong Qiu, Alastair Kent, Georgia M. Dunston, Norio Niikawa, Bartha Maria Knoppers, Morris W. Foster, Ellen Wright Clayton, Vivian Ota Wang, Jessica Watkin, Erica Sodergren, George M. Weinstock, Richard K. Wilson, Lucinda Fulton, Jane Rogers, Susan J. Birren, Hua Han, Hongguang Wang, Martin Godbout, John C. Wallenburg, Paul L'Archevêque, Guy Bellemare, Kazuo Todani, Satoshi Tanaka, Arthur L. Holden, Eric Lai, Francis S. Collins, Lisa D. Brooks, Jean E. McEwen, Mark S. Guyer, Elke Jordan, Jane L. Peterson, Jack Spiegel, Lawrence M. Sung, Lynn F. Zacharia, Karen Kennedy, Michael Dunn, Richard Seabrook, Mark Shillito, Barbara Skene, John Stewart, David Valle, Lynn B. Jorde, Mildred K. Cho, Troy Duster, Júlio Licinio, Jeffrey C. Long, Pilar N. Ossorio, Charmaine D M Royal, Patricia Spallone, Sharon F. Terry, Eric S. Lander, Deborah A. Nickerson, Michael Boehnke, Julie A. Douglas, Richard R. Hudson, Leonid Kruglyak, Robert L. Nussbaum

Bibliographic record

VenueNature · 2003
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsUniversité de MontréalGenome CanadaUniversité du Québec à MontréalMcGill University and Génome Québec Innovation CentreMcGill University
FundersNational Institute of Biomedical Imaging and BioengineeringNational Institute of Dental and Craniofacial ResearchNational Institute of Environmental Health SciencesNational Institute of Neurological Disorders and StrokeNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Center for Research ResourcesNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesW. M. Keck FoundationNational Institute on Deafness and Other Communication DisordersNational Institute on Drug AbuseNational Institute of Mental HealthNational Cancer InstituteNational Eye InstituteNational Institute on Alcohol Abuse and AlcoholismNational Institutes of HealthMinistry of Education, Culture, Sports, Science and TechnologyMinistry of Science and Technology of the People's Republic of ChinaNational Natural Science Foundation of ChinaBeijing Normal UniversityChinese Academy of SciencesUniversity Grants CommitteeNational Human Genome Research InstituteInnovation and Technology CommissionNational Institute on AgingWellcome TrustMcGill UniversityGenome Canada
KeywordsInternational HapMap ProjectHuman genomeSequence (biology)DNA sequencing1000 Genomes ProjectComputational biologyGenomeBiologyEvolutionary biologyGeneticsGeographyGenotypeDNAGene

Abstract

fetched live from OpenAlex

The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.

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 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)0.006
metaresearch head score (Gemma)0.017
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.054
Threshold uncertainty score0.181

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.017
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0060.013
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0020.003
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0540.027

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 head0.004
GPT teacher head0.252
Teacher spread0.248 · 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

Classification

machine, unvalidated

Machine 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 designObservational
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

Citations6,170
Published2003
Admission routes2
Has abstractyes

Explore more

Same venueNatureSame topicGenomics and Rare DiseasesFrench-language works237,207