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  • Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

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Diagnostics
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Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

Authors

  • José Marcos Moreno-Cabrera Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer - Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti, Badalona, Spain PubMed articlesGoogle scholar articles
  • Jesús del Valle Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Lidia Feliubadaló Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Marta Pineda Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Sara González Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Olga Campos Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Raquel Cuesta Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Joan Brunet Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain PubMed articlesGoogle scholar articles
  • Eduard Serra Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer - Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti, Badalona, Spain PubMed articlesGoogle scholar articles
  • Gabriel Capellà Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Bernat Gel Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer - Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti, Badalona, Spain PubMed articlesGoogle scholar articles
  • Conxi Lázaro Hereditary Cancer Program, Joint Program on Hereditary Cancer, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, L'Hospitalet de Llobregat, Spain Centro de Investigación Biomédica en Red Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Conxi Lázaro, Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, 08908 Catalunya, Spain; clazaro{at}iconcologia.net; Dr Bernat Gel; bgel{at}igtp.cat
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Citation

Moreno-Cabrera JM, del Valle J, Feliubadaló L, et al
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer
Journal of Medical Genetics 2022;59:75-78.

Publication history

  • Received July 23, 2020
  • Revised September 23, 2020
  • Accepted September 24, 2020
  • First published November 20, 2020.
Online issue publication 
January 08, 2022

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