On the Net : The Internet and genetic disease
Pourquoi ce travail est dans la base
Une base qui oublie comment elle a trouvé un travail ne peut pas être vérifiée. Voici les voies qui ont admis celui-ci.
Notice bibliographique
Résumé
The Human Genome Project and the Internet came of age together, so it's no surprise that information on genetics and genetic disease abounds on the Net. The definitive resource is the Online Mendelian Inheritance in Man (OMIM) database at the National Center for Biotechnology Information (www.ncbi.nlm.nih.gov/omim/), which contains more than 10 000 entries. It may be searched using the database's own search engine or via a newly added portal, Entrez (www.ncbi.nlm.nih.gov/entrez/). A search for results in 98 entries, topped by those for the CFTR gene and cystic fibrosis itself. Entries for individual diseases feature an up-to-date summary of the knowledge that is accumulating under headings such as description, clinical features, molecular genetics, pathogenesis, diagnosis and clinical management. Given the magnitude of the task and the rapid progress within the field, the summaries are a work-in-progress rather than an elegantly written review, but they are comprehensively referenced to original articles and reviews. Hyperlinks from each citation connect to details in Entrez. For larger entries — and some are very large indeed — a distillation (MINI-MIM) and clinical synopsis are offered. Links from the NCBI main page (www.ncbi.nlm.nih.gov/) lead to general educational material on genetic disease and the Human Genome Project. Many genetic diseases are rare, and the Office of Rare Diseases at the National Institutes of Health (rarediseases .info.nih.gov/ord) is a clearinghouse for information on them. (In most cases, a rare disease is defined as one that affects fewer than 200 000 people in the United States.) The site is designed to inform patients and physicians of ongoing research, contacts and resources. Other useful sites are www.geneclinics.com, which provides clinical information relating to testing for and managing inherited disorders, and www.modimes.org, which discusses common disorders. Visitors to www .genetic alliance.org will find a coalition of genetic support groups, while www.genetests.org offers a directory of laboratory tests. In Canada, the Canadian Association for Rare Disorders (www.cord.ca) was launched by Maureen Gaetz-Faubert of Lethbridge, Alta., after she was diagnosed with a rare connective-tissue disorder. This site sports links to numerous organizations and support groups and the organization itself provides information and electronic networking for families, physicians and researchers. There are also well-appointed Canadian sites dealing with specific genetic diseases. The Canadian Cystic Fibrosis Foundation (www.ccff.ca) provides information for patients and their caregivers, while the Canadian Hemophilia Society (“We're all related by blood”) has a comprehensive site (www.hemophilia.ca) dealing with different types of inherited bleeding disorders. —
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.
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,001 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
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 découle