Data · dataset · 2026
Development of Genetic Testing Strategies for Hereditary Breast and Ovarian Cancer Risk Prediction by Analysis of Spectrum of Predisposing Mutations and Their Phenotypic Manifestations: Genetic Data
Listed in Riga Stradins University dataverse
The NGS targeted panel including 9 genes was performed for samples with previously negative genetic testing results and available biological material.
Description
Pathogenicity of genetic variants were classified using a standardized framework developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP). Pathogenic variant description at genomic/coding/protein level according to HGVS recommendations.
Links
Where it is published
- Dataverse dataset page dataverse.rsu.lv/dataset.xhtml?persistentId=doi%3A10.48510%2FFK2%2FB4V921 ↗
landing page · from dataverse rsu lv
- DOI doi.org/10.48510/fk2/b4v921 ↗
DOI / persistent id · from dataverse rsu lv
Catalogue records · 1
- Dataverse API dataverse.rsu.lv/api/datasets/:persistentId/?persistentId=doi%3A10.48510%2FFK2%… ↗
metadata API · from dataverse rsu lv
Topics
- Stated by source
- Medicine, Health and Life Sciences
- From keywords
- Life Sciences · Medicine & Health
- Inferred from text
- Cancer 75% · Cancer genetics 79% · Sequencing 65%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| Riga Stradins University dataverse | doi:10.48510/FK2/B4V921 | 9 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| concepts[disease].local:disease:cancer | enrichment · dataverse rsu lv | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:field:321103 | enrichment · dataverse rsu lv | taxonomy-embedding@1.1.0 | title+keywords+description (79%) |
| concepts[field].dataverse_subject:medicine-health-and-life-sciences | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | /subjects |
| concepts[field].local:field:life-sciences | mapping · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | /subjects |
| concepts[field].local:field:medicine-health | mapping · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | /subjects |
| concepts[modality].local:modality:sequencing | enrichment · dataverse rsu lv | keyword-concept-rules@1.0.0 | title+description (65%) |
| created_date | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | |
| description | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | /description |
| publication_date | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | |
| title | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | /name |
| updated_date | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 | |
| version_label | source · dataverse rsu lv | connector:dataverse_rsu_lv@1.0.0 |