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Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
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 Biobank,...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364550/ https://www.ncbi.nlm.nih.gov/pubmed/35945607 http://dx.doi.org/10.1186/s13073-022-01094-y |