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,...

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Detalles Bibliográficos
Autores principales: Patrick, Matthew T., Bardhi, Redina, Zhou, Wei, Elder, James T., Gudjonsson, Johann E., Tsoi, Lam C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

Internet

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

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