Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

  title={Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing},
  author={Garrett M. Frampton and Alex M. Fichtenholtz and Geoff A. Otto and Kai Wang and Sean R. Downing and Ji{\'e} He and Michael Schnall-Levin and Jared White and Eric M Sanford and Peter An and James Sun and Frank S. Juhn and Kristina W Brennan and Kiel Iwanik and Ashley Maillet and Jamie K Buell and Emily White and Mandy Zhao and Sohail Balasubramanian and Selmira Terzic and Tina Richards and Vera Banning and L{\'a}zaro Claudiovino Garcia and Kristen Mahoney and Zac Zwirko and Amy Donahue and Himisha Beltran and Juan Miguel Mosquera and Mark A. Rubin and Snjezana Dogan and Cyrus V. Hedvat and Michael F. Berger and Lajos Pusztai and Matthias Lechner and Chris Boshoff and Mirna Jarosz and Christine M Vietz and A Parker and Vincent A. Miller and J S Ross and John Curran and Maureen T. Cronin and Philip J. Stephens and Doron Lipson and Roman Yelensky},
  journal={Nature Biotechnology},
As more clinically relevant cancer genes are identified, comprehensive diagnostic approaches are needed to match patients to therapies, raising the challenge of optimization and analytical validation of assays that interrogate millions of bases of cancer genomes altered by multiple mechanisms. Here we describe a test based on massively parallel DNA sequencing to characterize base substitutions, short insertions and deletions (indels), copy number alterations and selected fusions across 287… CONTINUE READING
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