Omics · dataset · 2026
Detecção e caracterização de variantes estruturais no genoma humano utilizando novas tecnologias
Listed in REDU - Unicamp Institutional Research Data Repository
This study contains data from chromosomal microarray analysis, whole genome sequencing, and optical genome mapping of 30 Brazilian individuals with intellectual disabilities, differences in sex development, or other rare diseases.
Description
Among the structural variants present in these individuals are balanced chromosomal rearrangements, complex chromosomal rearrangements, and ring chromosomes. The data cannot be made available due to intellectual property protection issues.
For further information, please contact those responsible.
Links
Where it is published
- Dataverse dataset page redu.unicamp.br/dataset.xhtml?persistentId=doi%3A10.25824%2Fredu%2F6IDUWI ↗
landing page · from redu unicamp br
- DOI doi.org/10.25824/redu/6iduwi ↗
DOI / persistent id · from redu unicamp br
Catalogue records · 1
- Dataverse API redu.unicamp.br/api/datasets/:persistentId/?persistentId=doi%3A10.25824%2Fredu… ↗
metadata API · from redu unicamp br
Topics
- Stated by source
- Medicine, Health and Life Sciences
- From keywords
- Genome sequencing · Life Sciences · Medicine & Health
- Inferred from text
- Gene mapping 78% · Sequencing 75%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| REDU - Unicamp Institutional Research Data Repository | doi:10.25824/redu/6IDUWI | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| concepts[field].anzsrc:field:310506 | enrichment · redu unicamp br | taxonomy-embedding@1.1.0 | title+keywords+description (78%) |
| concepts[field].dataverse_subject:medicine-health-and-life-sciences | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /subjects |
| concepts[field].local:field:life-sciences | mapping · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /subjects |
| concepts[field].local:field:medicine-health | mapping · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /subjects |
| concepts[modality].local:modality:genome-sequencing | mapping · redu unicamp br | vocabulary-mapper@1.0.0 | keywords['Whole genome sequencing'] |
| concepts[modality].local:modality:sequencing | enrichment · redu unicamp br | keyword-concept-rules@1.0.0 | title+description (75%) |
| created_date | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | |
| description | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /description |
| publication_date | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | |
| title | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /name |
| updated_date | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | |
| version_label | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 |