PhenCode: Examples

Locus-specific databases of variants and other mutations form a key link between the abundance of genomic information and clinically important issues. Here we show how the PhenCode connections complete a path from genome sequence, to functional analysis, to human mutations, and on to phenotypes of groups of patients (and back again). Among the resources used are the following:

The connectivity among these resources, as well as other LSDBs and Genome Browser tracks, is illustrated in the following examples.

Using GenPhen to find candidate mutations for a thalassemia patient, then viewing them in register with ENCODE functional data at the Genome Browser.
Using PhenCode with the Genome Browser's resident tracks to examine multi-species conservation at the sites of observed mutations in the human PAH gene.
Using HbVar to search for hemoglobin mutations associated with particular laboratory findings and ethnicity.

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