Making Sense of Genomic Variation: Part 1 SNP AnnotationMaking Sense of Genomic Variaton (2016)
The specific combination of genetic variation in an individual defines not only the external appearance but also susceptibility to diseases, cancer, genetic disorders, drug response, etc. This explains the great interest in discovering and cataloging these variations and using them for disease association and functional studies, among others. In this session we will review the most popular databases and tools to annotate, analyze and visualize genetic variations. Some of the databases and tools that will be discussed are:
- Online Mendelian Inheritance in Man a comprehensive, authoritative compendium of human genes and genetic phenotypes.
- GWAS Catalog
- EBI's Ensembl Variant Effect Predictor to annotate and determine the effect of variants on genes, transcripts, and protein sequence, as well as regulatory regions.
These handouts offer step-by-step instructions on how to use online resources to find, retrieve and annotate SNPs. This material is part of an standalone workshop on SNP annotation.
- genetic variation,
- Variant Effect Predictor,
Publication DateSpring April, 2016
Citation InformationRolando Garcia-Milian. "Making Sense of Genomic Variation: Part 1 SNP Annotation" Making Sense of Genomic Variaton (2016)
Available at: http://works.bepress.com/rolando_garciamilian/11/
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