AgileVariantMapper visualises sequence variant data from whole exome data, so that it is possible to identify autozygous regions in consanguineous individuals. The data can originate from files exported by AgileGenotyper, AgileAnnotator, AgileVariantViewer or a correctly formatted tab-delimited text file as described in the user guide.

Guide explaining how to use AgileVariantMapper:

AgileVariantMapper's user guide can be found here.


The AgileVariantMapper program can be downloaded here.


Carr IM, Bhaskar S, O' Sullivan J, Aldhamesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Autozygosity mapping with exome sequence data. Hum Mutat. 2012 Oct 3. DOI: 10.1002/humu.22220 [Epub ahead of print]

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