Work

Some Phenotype Association Tools in Galaxy: Looking for Disease SNPs in a Full Genome

Year: 2012

Type: article

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.

Source: Current Protocols in Bioinformatics

DOI: 10.1002/0471250953.bi1502s39

Authors: Belinda M. Giardine, Cathy Riemer, Richard Burhans, Aakrosh Ratan, Webb Miller

Institution: Pennsylvania State University

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze