Mechanistic and Therapeutic Advances in Rare Skeletal Diseases Meeting, September 26–27, 2018: A Meeting in Affiliation With the American Society for Bone and Mineral Research (ASBMR)
Bibliographic record
Abstract
A rare disease in the US is defined as a condition that affects fewer than 200,000 Americans.Similar numerical definitions are found in other countries with the vast majority of them being caused by genetic mutations that are transmitted in Mendelian fashion.Increasingly powerful genomic technologies such as next-generation sequencing have led to the identification of close to 4000 disease-associated genes and more than 7000 phenotypes associated with mutations in these genes.The following collection of abstracts were presented in the recent conference co-organized by the Rare Bone Diseases Alliance, the Osteogenesis Imperfecta Foundation, and the Brittle Bone Disorders Consortium of the NIH Rare Diseases Clinical Research Consortia on the Mechanistic and Therapeutic Advances of Rare Skeletal Diseases on September 26-27 in Montreal, Canada.The purpose of the conference, held in partnership with the American Society for Bone and Mineral Research Annual Meeting, was to bring together clinicians and basic, translational, and clinical researchers interested in rare genetic disorders affecting the skeleton and to provide a forum for state-of-the-art talks on the current state of diagnosis, preclinical models and mechanistic basis of disease, therapeutic strategies in the clinical arena, and novel endpoints and assessments.The initial session focused on diagnostic approaches to rare skeletal diseases ranging from classical radiographic and ultrasonographic approaches to multi-omic approaches based on next-generation DNA sequencing, RNA sequencing, and metabolomics; evaluation of chromatin architecture in controlling gene expression in the context of translating rare genetic mutation to common bone phenotypes; and finally, analysis of protein modifications of macromolecules such as collagens in the pathogenesis of bone disease.These talks underscored the importance of multidimensional approaches to phenotyping
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 machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.002 | 0.004 |
| Insufficient payload (model declined to judge) | 0.051 | 0.020 |
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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".