Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/s41467-018-03910-9.pdf
Reference81 articles.
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2. Rivas, M. A. et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat. Genet. 43, 1066–1073 (2011).
3. Cohen, J. et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 37, 161–165 (2005).
4. Cohen, J. C., Boerwinkle, E., Mosley, T. H. J. & Hobbs, H. H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354, 1264–1272 (2006).
5. Saleheen, D. et al. Human knockouts in a cohort with a high rate of consanguinity. Nature 544, 235–239 (2015).
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