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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the remainder of the cohort (total N~500K) to impute e...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349845/ https://www.ncbi.nlm.nih.gov/pubmed/34226706 http://dx.doi.org/10.1038/s41588-021-00892-1 |