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Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models

Andrews, Thomas Daniel; Whittle, Belinda; Field, Matthew; Balakishnan, Bhavani; Zhang, Yafei; Shao, Yunlin (Lilly); Cho, Eun; Kirk, Michael; Singh, Mandeep; Xia, Yu; Hager, J; Winslade, Stephen; Sjollema, Geoffrey; Beutler, B; Enders, Anselm; Goodnow, Christopher

Description

Accurate identification of sparse heterozygous single-nucleotide variants (SNVs) is a critical challenge for identifying the causative mutations in mouse genetic screens, human genetic diseases and cancer. When seeking to identify causal DNA variants that occur at such low rates, they are overwhelmed by falsepositive calls that arise from a range of technical and biological sources. We describe a strategy using whole-exome capture, massively parallel DNA sequencing and computational analysis,...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
URI: http://hdl.handle.net/1885/39569
Source: Open Biology
DOI: 10.1098/rsob.120061

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