On the Net : The Internet and genetic disease
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
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. —
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.
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it