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

Authors

  • Sara Monzon 1. Bioinformatic Unit, National Centre of Microbiology, Instituto de Salud Carlos III (ISCIII), Majadahonda, Madrid. 2. Chilhood Solid Tumor Unit, Instituto de Investigación de Enfermedades Raras, ISCIII, Majadahonda, Madrid
  • Javier Alonso Chilhood Solid Tumor Unit, Instituto de Investigación de Enfermedades Raras, ISCIII, Majadahonda, Madrid
  • Gonzalo Gómez Bioinformatic Unit, Centro Nacional de Investigaciones Oncológicas (CNIO), Madrid.
  • David Gonzalez-Pisano Bioinformatic Unit, Centro Nacional de Investigaciones Oncológicas (CNIO), Madrid.
  • Isabel Cuesta Bioinformatic Unit. National Centre of Microbiology, Instituto de Salud Carlos III (ISCIII), Majadahonda, Madrid.

DOI:

https://doi.org/10.14806/ej.19.A.659

Keywords:

exome, next generation sequencing, tumour

Abstract

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.

Author Biographies

  • Javier Alonso, Chilhood Solid Tumor Unit, Instituto de Investigación de Enfermedades Raras, ISCIII, Majadahonda, Madrid
    Coordinator Unit
  • Isabel Cuesta, Bioinformatic Unit. National Centre of Microbiology, Instituto de Salud Carlos III (ISCIII), Majadahonda, Madrid.
    Coordinator Bioinformatic Unit

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Published

2013-04-08

Issue

Vol. 19: Supplement A

Section

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