| Title: | Whole-genome sequencing of patients with rare diseases in a national health system |
| Journal: | Nature |
| Published: | 1 Jul 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32581362/ |
| DOI: | https://doi.org/10.1038/s41586-020-2434-2 |
Publication 6014
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16 Keywords
- Actin-Related Protein 2-3 Complex
- Adaptor Proteins, Signal Transducing
- Alleles
- Databases, Factual
- Erythrocytes
- GATA1 Transcription Factor
- Humans
- Internationality
- National Health Programs
- Phenotype
- Quantitative Trait Loci
- Rare Diseases
- Receptors, Thrombopoietin
- State Medicine
- United Kingdom
- Whole Genome Sequencing
1 Author
- Turro E et al.
1 Application
| Application ID | Title |
|---|---|
| 9616 | The Genetics of Extreme Blood Indices by Whole Genome Sequencing |
Enabling scientific discoveries that improve human health