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Record W2148399816 · doi:10.1126/science.1083423

Human Chromosome 7: DNA Sequence and Biology

2003· article· en· W2148399816 on OpenAlexafffund
Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Hobeika Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, S. Gentles, Constantine Christopoulos, Sanaa Choufani, Dorota A. Kwasnicka, Xiangqun Zheng-Bradley, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Małgorzata J.M. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Heng, Pier Giuseppe Pelicci, Francesco Lo‐Coco, Elena Belloni, Lisa G. Shaffer, Barbara R. Pober, Cynthia C. Morton, James F. Gusella, G.A.P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung‐Goo Kim, Anne Summers, Karen W. Gripp, Wendy Roberts, Péter Szatmári, E.J.T. Winsor, Karl‐Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluı́s Armengol, Miguel Ángel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David Oscier, Sarah Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard Mural, Mark D. Adams, Lap-Chee Tsui

Bibliographic record

VenueScience · 2003
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsUniversity of TorontoUniversity Health NetworkCentre for Addiction and Mental HealthMemorial University of NewfoundlandHospital for Sick ChildrenMcMaster University
FundersNational Institute of General Medical SciencesCanadian Institutes of Health Research
KeywordsGeneticsBiologyGeneHuman genomeChromosomeSequence (biology)DNA sequencingChromosome 21DNAChromosome 22BreakpointCircular bacterial chromosomeComputational biologyWhole genome sequencingGenome

Abstract

fetched live from OpenAlex

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

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)0.000
metaresearch head score (Gemma)0.001
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 score0.008
Threshold uncertainty score0.027

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0020.002
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0080.015

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 head0.026
GPT teacher head0.287
Teacher spread0.260 · 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

Citations214
Published2003
Admission routes2
Has abstractyes

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