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Record W2088224929 · doi:10.1517/17530059.2.4.417

Copy number variation in the autism genome

2008· article· en· W2088224929 on OpenAlexaff
Lars Feuk

Bibliographic record

VenueExpert Opinion on Medical Diagnostics · 2008
Typearticle
Languageen
FieldNeuroscience
TopicAutism Spectrum Disorder Research
Canadian institutionsHospital for Sick Children
Fundersnot available
KeywordsCopy-number variationHeritability of autismAutismStructural variationVariation (astronomy)Genetic variationBiologyAutism spectrum disorderGeneticsGenomeComputational biologyMedicineGenePsychiatry

Abstract

fetched live from OpenAlex

BACKGROUND: Autism spectrum disorders (ASDs) are among the most heritable of all neurodevelopmental disorders. Despite intense research there has been limited success in deciphering the etiology of ASDs. OBJECTIVE: It has been shown that chromosomal rearrangements play an important role in ASDs. The recent development of techniques to screen the genome for genetic variation at ever-higher resolution has led to some crucial discoveries over the last year. This progress is described and discussed. METHODS: This review provides an overview of genetic variation studies in ASD, with a focus on structural genetic variation. RESULTS/CONCLUSION: Screening for copy number variation is an important approach in ASD research. With the introduction of next-generation sequencing, the pace of ASD genetics will increase in the near future.

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 distilled prediction

Teacher imitation

Not 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)0.000
metaresearch head score (Gemma)0.009
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch, Insufficient payload (model declined to judge)
Consensus categoriesInsufficient payload (model declined to judge)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.864
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.009
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.002

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 head0.058
GPT teacher head0.356
Teacher spread0.298 · 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; both teacher heads agree on what is shown here.

Study designTheoretical or conceptual
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

Citations2
Published2008
Admission routes1
Has abstractyes

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