Influence of autozygosity on common disease risk across the phenotypic spectrum

Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (F(ROH)) and common diseases in Genes & Health (n = 23,978 British South Asians), UK Biobank (n = 397,184)...

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Detalles Bibliográficos
Autores principales: Malawsky, Daniel S., van Walree, Eva, Jacobs, Benjamin M., Heng, Teng Hiang, Huang, Qin Qin, Sabir, Ataf H., Rahman, Saadia, Sharif, Saghira Malik, Khan, Ahsan, Mirkov, Maša Umićević, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S., Posthuma, Danielle, Newman, William G., Griffiths, Christopher J., Mathur, Rohini, van Heel, David A., Finer, Sarah, O’Connell, Jared, Martin, Hilary C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580289/
https://www.ncbi.nlm.nih.gov/pubmed/37757828
http://dx.doi.org/10.1016/j.cell.2023.08.028

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