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Computational prediction of the phenotypic effects of genetic variants: basic concepts and some application examples in Drosophila nervous system genes.
Sánchez-Gracia, Alejandro; Guirao-Rico, Sara; Hinojosa-Alvarez, Silvia; Rozas, Julio.
Affiliation
  • Sánchez-Gracia A; a Departament de Genètica, Microbiologia i Estadística and Institut de Recerca de la Biodiversitat (IRBio), Facultat de Biologia , Universitat de Barcelona , Barcelona , Spain.
  • Guirao-Rico S; b Center for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB , Bellaterra , Spain.
  • Hinojosa-Alvarez S; a Departament de Genètica, Microbiologia i Estadística and Institut de Recerca de la Biodiversitat (IRBio), Facultat de Biologia , Universitat de Barcelona , Barcelona , Spain.
  • Rozas J; a Departament de Genètica, Microbiologia i Estadística and Institut de Recerca de la Biodiversitat (IRBio), Facultat de Biologia , Universitat de Barcelona , Barcelona , Spain.
J Neurogenet ; 31(4): 307-319, 2017 12.
Article in En | MEDLINE | ID: mdl-29168413
ABSTRACT
Predicting the phenotypic impact of mutations is a central challenge in population and functional genetics. The analysis of DNA and amino acid sequence variation in an evolutionary context is a robust approach to infer the fitness effects of genetic variants. In this review, we discuss the most popular methods based on this approach, covering both theoretical and practical aspects, and introduce compelling software for predicting the functional effects of mutations, and to highlight functionally relevant nucleotide or amino acid candidate positions. Furthermore, we provide some examples of their application to Drosophila genes affecting significant aspects of the development, physiology and function of the nervous system.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Drosophila / Genetic Association Studies / Models, Genetic Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals Language: En Journal: J Neurogenet Year: 2017 Type: Article Affiliation country: Spain
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Genetic Variation / Drosophila / Genetic Association Studies / Models, Genetic Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals Language: En Journal: J Neurogenet Year: 2017 Type: Article Affiliation country: Spain