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\begin{document}

\title{NGS in diagnostics - where things can go wrong}



\author[1]{Jordi Corominas Galbany}%
\author[1]{Sanne Smeekens}%
\author[1]{Marcel Nelen}%
\author[1]{Helger Yntema}%
\author[1]{Erik-Jan Kamsteeg}%
\author[1]{Rolph Pfundt}%
\author[1]{Christian Gilissen}%
\affil[1]{Radboud University Medical Center}%


\vspace{-1em}



  
  \date{June 12, 2024}


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\begin{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.%
\end{abstract}%



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