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Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting.


Rosa-Rosa JMJuan Manuel , Gracia-Aznárez FJ Francisco Javier , Hodges E Emily , Pita G Guillermo , Rooks M Michelle , Xuan Z Zhenyu , Bhattacharjee A Arindam , Brizuela L Leonardo , Silva JM José M , Hannon GJ Gregory J , Benitez J Javier . PloS one. 2010 ; 5(4). e9976


The classical candidate-gene approach has failed to identify novel breast cancer susceptibility genes. Nowadays, massive parallel sequencing technology allows the development of studies unaffordable a few years ago. However, analysis protocols are not yet sufficiently developed to extract all information from the huge amount of data obtained.