Genetic Variation

Volume 628 of the series Methods in Molecular Biology pp 39-52


Asking Complex Questions of the Genome Without Programming

  • Peter M. WoollardAffiliated withComputational Biology, Quantitative Sciences, GlaxoSmithKline Pharmaceuticals Email author 

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Increasingly, vast amounts of genomics and genetic data are available. Although much of the data is largely accessible to relatively simple web queries, in some cases, more complex queries are required. This paper reviews the hierarchy of tools for querying genetic and genomic data. For querying multiple genes, variants or regions ENSEMBL BioMart and the UCSC Table Browser offer flexible interfaces. For more complex queries, GALAXY is a sophisticated tool for building workflows over existing internet resources. For the most challenging genome scale queries, programmatic access may be required through a defined application programming interface (API) - such as the one provided by Ensembl. All these tools allow one to rapidly ask many questions that were difficult to answer a few years ago, but choosing the appropriate tool for the job is critical.

Key words

Genome Genetics SNP Bioinformatics Workflow Pipeline API