title: Some phenotype association tools in Galaxy: looking for disease SNPs in a full genome.
abstract: This unit focuses on some of the tools available on the public Galaxy server that are useful for exploring possible associations between human genetic variants and phenotypes. We trace step-by-step through an example illustrating several methods for examining a single full-coverage genome to look for single-nucleotide polymorphisms (SNPs) that are either known to be associated with disease or suspected to have impact for other reasons. It makes use of public genomic data, tools designed specifically for working with variants, and also some general tools for text manipulation and operations on genomic coordinates.
authors.affiliation: Pennsylvania State University, University Park, Pennsylvania.
authors.forename: Belinda M
authors.initials: BM
authors.lastname: Giardine
authors.affiliation: Pennsylvania State University, University Park, Pennsylvania.
authors.forename: Cathy
authors.initials: C
authors.lastname: Riemer
authors.affiliation: Pennsylvania State University, University Park, Pennsylvania.
authors.forename: Richard
authors.initials: R
authors.lastname: Burhans
authors.affiliation: Pennsylvania State University, University Park, Pennsylvania.
authors.forename: Aakrosh
authors.initials: A
authors.lastname: Ratan
authors.affiliation: Pennsylvania State University, University Park, Pennsylvania.
authors.forename: Webb
authors.initials: W
authors.lastname: Miller
mesh_terms: D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012984:Software