Rare coding variant analysis for human diseases across biobanks and ancestries
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Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41588-024-01894-5.pdf
Reference82 articles.
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2. Taliun, D. et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 590, 290–299 (2021).
3. Wang, Q. et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature 597, 527–532 (2021).
4. Karczewski, K. J. et al. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes. Cell Genomics 2, 100168 (2022).
5. Jurgens, S. J. et al. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nat. Genet. 54, 240–250 (2022).
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