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NGS in diagnostics - where things can go wrong
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  • Jordi Corominas Galbany,
  • Sanne Smeekens,
  • Marcel Nelen,
  • Helger Yntema,
  • Erik-Jan Kamsteeg,
  • Rolph Pfundt,
  • Christian Gilissen
Jordi Corominas Galbany
Radboud University Medical Center
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Sanne Smeekens
Radboud University Medical Center
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Marcel Nelen
Radboud University Medical Center
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Helger Yntema
Radboud University Medical Center
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Erik-Jan Kamsteeg
Radboud University Medical Center
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Rolph Pfundt
Radboud University Medical Center
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Christian Gilissen
Radboud University Medical Center
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Abstract

Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology. The learning curve we went through as a laboratory was accompanied by growing pains while we gained new knowledge and expertise. Here we discuss some important mistakes that have been made in our laboratory through ten years of clinical exome sequencing but that have given us important new insights on how to adapt our working methods. By providing these examples and the lessons that we learned from them, we hope that other laboratories do not need to make the same mistakes.

Peer review status:UNDER REVIEW

10 Jul 2021Submitted to Human Mutation
12 Jul 2021Assigned to Editor
12 Jul 2021Submission Checks Completed
02 Aug 2021Reviewer(s) Assigned
16 Sep 2021Review(s) Completed, Editorial Evaluation Pending