Comparison of variant calling methods in exome sequencing of matched tumor-normal sample pairs

Sara Monzon, Javier Alonso, Gonzalo Gómez, David Gonzalez-Pisano, Isabel Cuesta


This study is a comparison of variant calling methods in exome sequenced of matched tumor-normal sample pairs. Preliminary results prove that the determination of somatic mutations in tumors requires that the specific algorithms are able to analyze, in a combined way, the information provided by tumor DNA and constitutional DNA, and thus enabling better precise distinction between germinal and somatic variants.


exome; next generation sequencing; tumour

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