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Autozygosity mapping using Next generation sequence data

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.


Carr IM, Bhaskar S, O’ Sullivan J, Aldhamesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. (2012) ` Autozygosity mapping with exome sequence data. Hum Mutat. 2012 Accepted Sept 7

Guide to use of AgileVariantMapper:

The AgileVariantMapper user guide can be found here.


The AgileVariantMapper program can be downloaded from my department web site here.

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