Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
Abstract 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 B...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMC
2022-08-01
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| シリーズ: | Genome Medicine |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1186/s13073-022-01094-y |
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