Notice bibliographique
Résumé
LEGACY LEGACYI still remember very vividly the first lecture that I ever heard from Prof. Peter Beighton.This was shortly after he arrived in Cape Town in 1972.Were it not for Peter, I do not think that I would ever have entered the field of human genetics.With his enthusiasm and brilliant presentation, and the capability of evoking excitement and dreams, Peter Beighton inspired me.Shortly after I had heard that lecture, I presented myself at the Department of Human Genetics, which was newly established and the first in Africa.I asked him whether I could participate in any research projects.I was particularly drawn to his research projects, as it appeared that they opened up new possibilities for understanding biology in different populations, which might have relevance for the general population.Peter's stories of his hiking through the Sahara Desert with the Tuareg, and his stories from different populations in Africa, inspired me and elucidated for me for the first time the power of studying rare families and their ability to inform general rules of biology.As a medical student, I then pursued many research projects with Prof. Beighton.I recall travelling with him to the Kalahari Desert in an effort to understand and explore the basis of steatopygia in the Khoisan people.I also recall very vividly the first introduction that Peter made for me to patients with increased bone density.Peter was an expert and had already specialised in patients with bone dysplasias, including increased bone density, and had authored authoritative manuscripts on sclerosing bone dyplasias.[1,2] I was fortunate to go with Peter to visit families with sclerosteosis in different parts of the country.These were very moving moments as I saw, first hand, the impact of this increased bone density on patients.[3,4] In a few instances, we actually saw, to our deep sadness, the increased intracranial pressure leading to severe symptoms and occasionally also to death, as a result of the increased density of the skull.These vivid images have stayed with me throughout my life and have also inspired me to look and see what we could learn from and do for those with rare conditions.After I moved to Vancouver, to the University of British Columbia from Harvard Medical School in 1983, and founded my first company, Xenon Genetics, I remembered those patients with sclerosteosis and went back to Peter.I persuaded him and others to send a postdoctoral fellow to the USA in an effort to bring DNA to clone that particular gene.When I looked at the X-rays of these patients with Peter, it was obvious that this was not a disorder of osteoclast overactivity, but appeared to be most likely due to unregulated overexpression of the osteoblast.I
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 | 0,010 | 0,023 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,001 |
| Méta-épidémiologie (sens large) | 0,001 | 0,001 |
| Bibliométrie | 0,003 | 0,001 |
| Études des sciences et des technologies | 0,003 | 0,003 |
| Communication savante | 0,006 | 0,004 |
| Science ouverte | 0,002 | 0,004 |
| Intégrité de la recherche | 0,004 | 0,014 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,037 | 0,031 |
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 ».