Constraint on Rare Protein-Coding Variation: Pathogenicity Prediction and Phenotypic Discovery
Patterns of genetic variation along the human genome provide insight into functional and evolutionary constraints on different loci. Quantifying these patterns of constraint improves our ability to identify functional regions and interpret the phenotypic effects of genetic mutations. Building on exo...
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| Format: | Others |
| Language: | en |
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VANDERBILT
2018
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| Online Access: | http://etd.library.vanderbilt.edu/available/etd-01152018-141952/ |