Bookmarks
Population Size
7,840
People
Years
2023
Associated BioSamples
RNA
Geographic coverage
UK
Lead time
2-6 months
Summary
Documentation
Dataset type
Dataset population size
Keywords
Observations
Observed Node | Disambiguating Description | Measured Value | Measured Property | Observation Date |
|---|---|---|---|---|
Persons | A subset of rare disease probands from the 100,000 Genomes Project who did not receive a genetic diagnosis through the Genomics England Interpretation Pipeline. 7840 samples from 7829 probands: 5546 samples in the initial Pilot project, 2294 samples in the Extension | 7840 | RNA-Seq | 25 Sep 2025 |
Provenance
Purpose of dataset collection
Source of data extraction
Collection source setting
Patient pathway description
Image contrast
Biological sample availability
Structural Metadata
Details
Publishing frequency
Version
Modified
04/02/2026
Distribution release date
11/09/2025
Citation Requirements
Coverage
Start date
21/12/2023
Time lag
Geographic coverage
Maximum age range
Follow-up
Accessibility
Language
Alignment with standardised data models
Controlled vocabulary
Format
Data Access Request
Dataset pipeline status
Access rights
Time to dataset access
Access request cost
Access service description
Data use limitation
Data use requirements
Data Controller
Data Processor