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oapen-20.500.12657-488862021-06-02T14:19:17Z Chapter Functional Annotation of Rare Genetic Variants Ritchie, Graham Flicek, Paul genetic variants; genetic studies bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Genome-wide association studies have successfully identified a growing number of common variants that robustly associate with a wide range of complex diseases and phenotypes. In the majority of cases though, the variants are predicted to have small to modest effect sizes, and, due to the technologies used, many of the signals discovered so far may not be the causal loci. As rare variation studies begin to explore the lower ranges of the allele frequency spectrum, using whole genome or whole exome sequencing to capture a larger proportion of variants, we expect to find variants with a more direct causal role in the phenotype(s) of interest. Interpreting possible functional mechanisms linking variants with phenotypes will become increasingly important. 2021-06-02T09:55:59Z 2021-06-02T09:55:59Z 2015 chapter 9781493928231 https://library.oapen.org/handle/20.500.12657/48886 eng application/pdf Attribution 4.0 International Bookshelf_NBK539450.pdf Springer Nature Assessing Rare Variation in Complex Traits 6c6992af-b843-4f46-859c-f6e9998e40d5 a58c953d-c619-408d-ac2a-bed06b148ca3 d859fbd3-d884-4090-a0ec-baf821c9abfd 9781493928231 Wellcome 14 New York Wellcome Trust Wellcome open access
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Genome-wide association studies have successfully identified a growing number of
common variants that robustly associate with a wide range of complex diseases and
phenotypes. In the majority of cases though, the variants are predicted to have small to
modest effect sizes, and, due to the technologies used, many of the signals discovered
so far may not be the causal loci. As rare variation studies begin to explore the lower
ranges of the allele frequency spectrum, using whole genome or whole exome
sequencing to capture a larger proportion of variants, we expect to find variants with a
more direct causal role in the phenotype(s) of interest. Interpreting possible functional
mechanisms linking variants with phenotypes will become increasingly important.
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