Notice bibliographique
Résumé
Samuli Ripatti and colleagues1Ripatti S Tikkanen E Orho-Melander M et al.A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.Lancet. 2010; 376: 1393-1400Summary Full Text Full Text PDF PubMed Scopus (411) Google Scholar examine 13 recently discovered genetic risk factors for coronary heart disease (CHD) to estimate the magnitude of risk they confer above and beyond traditionally established risk factors. Ripatti and colleagues conclude that a genetic risk score comprising these 13 single nucleotide polymorphisms (SNPs) was associated with a significant increase in the risk of prevalent and incident CHD in a subsample of individuals of European ancestry.Although this is an important question and the study is methodologically sound and represents the largest effort to date on this topic, it was very disappointing to see that, after millions, and perhaps billions, of dollars invested in genomic research over the past few years, there is so little to show for it. Although the score was associated with incident disease, it failed to improve risk discrimination. The fact that non-invasive, easily available, and often inexpensive traditional risk factors for CHD such as age, gender, or blood pressure outperform by a large margin a genetic risk score reaffirms the importance of comprehensive physical examination and medical history as the cornerstones of the diagnostic process for CHD.2Pryor DB Shaw L McCants CB et al.Value of the history and physical in identifying patients at increased risk for coronary artery disease.Ann Intern Med. 1993; 118: 81-90Crossref PubMed Scopus (428) Google ScholarI declare that I have no conflicts of interest. Samuli Ripatti and colleagues1Ripatti S Tikkanen E Orho-Melander M et al.A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.Lancet. 2010; 376: 1393-1400Summary Full Text Full Text PDF PubMed Scopus (411) Google Scholar examine 13 recently discovered genetic risk factors for coronary heart disease (CHD) to estimate the magnitude of risk they confer above and beyond traditionally established risk factors. Ripatti and colleagues conclude that a genetic risk score comprising these 13 single nucleotide polymorphisms (SNPs) was associated with a significant increase in the risk of prevalent and incident CHD in a subsample of individuals of European ancestry. Although this is an important question and the study is methodologically sound and represents the largest effort to date on this topic, it was very disappointing to see that, after millions, and perhaps billions, of dollars invested in genomic research over the past few years, there is so little to show for it. Although the score was associated with incident disease, it failed to improve risk discrimination. The fact that non-invasive, easily available, and often inexpensive traditional risk factors for CHD such as age, gender, or blood pressure outperform by a large margin a genetic risk score reaffirms the importance of comprehensive physical examination and medical history as the cornerstones of the diagnostic process for CHD.2Pryor DB Shaw L McCants CB et al.Value of the history and physical in identifying patients at increased risk for coronary artery disease.Ann Intern Med. 1993; 118: 81-90Crossref PubMed Scopus (428) Google Scholar I declare that I have no conflicts of interest. SNPs and coronary heart disease – Authors' replyThe main aim of our study was to validate recently discovered genetic risk factors for coronary heart disease (CHD) and to estimate the magnitude of risk conferred by these genetic risk factors in population-based prospective cohort studies. We showed that the joint effect of 13 known genetic loci—when measured as relative risk between the top and bottom 20% of individuals—was 1·7 (95% CI 1·4–2·0), even after adjusting for known Framingham risk factors1 and family history of CHD. The effect is comparable to that of systolic blood pressure (hazard ratio 1·7, 95% CI 1·2–2·3) but slightly smaller than for LDL cholesterol (2·1, 1·6–2·8). Full-Text PDF
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,002 | 0,006 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,001 |
| Bibliométrie | 0,001 | 0,002 |
| Études des sciences et des technologies | 0,001 | 0,000 |
| Communication savante | 0,001 | 0,001 |
| Science ouverte | 0,001 | 0,001 |
| Intégrité de la recherche | 0,002 | 0,002 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,009 | 0,002 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».