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Record W1897836675

How Genomics is Changing Medical Practice

2012· article· en· W1897836675 on OpenAlexvenueno aff
Ruth Eva Thomas

Bibliographic record

VenueUBC Faculty of Medicine medical journal · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsnot available
Fundersnot available
KeywordsPharmacogenomicsGenomicsPersonalized medicineMedicinePrecision medicineIntellectual disabilityBioinformaticsGenomeGeneticsPsychiatryBiologyPathologyGenePharmacology
DOInot available

Abstract

fetched live from OpenAlex

Exponential improvements in genomic technology have allowed researchers focus on the information contained in the human genome, in the hopes of applying that knowledge clinically. The field of genomics, where all of the genes of an individual are considered at once, has already begun to change the way that medicine is practiced. For instance, chromosomal microarrays are already being utilized in the diagnosis of autism spectrum disorder, development delay, intellectual disability and birth defects. By recognizing duplications and deletions which are too small to identify with traditional chromosome analysis, we are able to improve diagnostic yield for these disorders.  Whole genome sequencing has been used to diagnosis genetic illnesses, even in cases when the clinical picture or diagnosis is unclear.  Through pharmacogenomics, which can help explain how genetic variants affect drug metabolism, we will be able to decrease the staggering incidence of adverse drug reactions, as well as to guide physicians on which medications are the most appropriate for individual patients. With better understanding of how genomic changes lead to illness, the body’s response to illness and treatment, physicians will be able to practice more personalized medicine, offering more effective and safer treatment.   Genomics has already begun to impact medical care and will likely revolutionize how medicine is practiced 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)0.002
metaresearch head score (Gemma)0.006
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.362
Threshold uncertainty score0.809

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.006
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.019
GPT teacher head0.310
Teacher spread0.291 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
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

Citations0
Published2012
Admission routes1
Has abstractyes

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