Chapter Functional Annotation of Rare Genetic Variants
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 technolo...
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| פורמט: | Online |
| שפה: | אנגלית |
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Springer Nature
2021
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| גישה מקוונת: | https://library.oapen.org/handle/20.500.12657/48886 |
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| _version_ | 1869523723594235904 |
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| author | Ritchie, Graham Flicek, Paul |
| author_browse | Flicek, Paul Ritchie, Graham |
| author_facet | Ritchie, Graham Flicek, Paul |
| author_sort | Ritchie, Graham |
| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-70472 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Springer Nature |
| publisherStr | Springer Nature |
| record_format | ojs |
| spelling | doab-20.500.12854ir-704722025-08-13T14:11:57Z Chapter Functional Annotation of Rare Genetic Variants Ritchie, Graham Flicek, Paul genetic variants; genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::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. 2021-06-03T02:06:49Z 2021-06-03T02:06:49Z 2021-06-02T09:55:59Z 2015 chapter https://library.oapen.org/handle/20.500.12657/48886 9781493928231 https://directory.doabooks.org/handle/20.500.12854/70472 eng open access image/jpeg image/jpeg Attribution 4.0 International Attribution 4.0 International https://library.oapen.org/bitstream/20.500.12657/48886/1/Bookshelf_NBK539450.pdf https://library.oapen.org/bitstream/20.500.12657/48886/1/Bookshelf_NBK539450.pdf Springer Nature 9fa3421d-f917-4153-b9ab-fc337c396b5a Assessing Rare Variation in Complex Traits Wellcome Trust d859fbd3-d884-4090-a0ec-baf821c9abfd 9781493928231 Wellcome 14 New York open access |
| spellingShingle | genetic variants; genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Ritchie, Graham Flicek, Paul Chapter Functional Annotation of Rare Genetic Variants |
| title | Chapter Functional Annotation of Rare Genetic Variants |
| title_full | Chapter Functional Annotation of Rare Genetic Variants |
| title_fullStr | Chapter Functional Annotation of Rare Genetic Variants |
| title_full_unstemmed | Chapter Functional Annotation of Rare Genetic Variants |
| title_short | Chapter Functional Annotation of Rare Genetic Variants |
| title_sort | chapter functional annotation of rare genetic variants |
| topic | genetic variants; genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| topic_facet | genetic variants; genetic studies thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| url | https://library.oapen.org/handle/20.500.12657/48886 |
| work_keys_str_mv | AT ritchiegraham chapterfunctionalannotationofraregeneticvariants AT flicekpaul chapterfunctionalannotationofraregeneticvariants |