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Thousands of missing variants in the UK Biobank are recoverable by genome realignment
The UK Biobank is an unprecedented resource for human disease research. In March 2019, 49,997 exomes were made publicly available to investigators. Here we note that thousands of variant calls are unexpectedly absent from this dataset, with 641 genes showing zero variation. We show that the reason f...
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| Publicado en: | Ann Hum Genet |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7402360/ https://ncbi.nlm.nih.gov/pubmed/32232836 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12383 |
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