Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
Abstract Background Rare diseases collectively affect up to 10% of the population, but often lack effective treatment, and typically little is known about their pathophysiology. Major challenges include suboptimal phenotype mapping and limited statistical power. Population biobanks, such as the UK B...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2022-08-01
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| Col·lecció: | Genome Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13073-022-01094-y |
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