NGS in diagnostics - where things can go wrong
- Jordi Corominas Galbany,
- Sanne Smeekens,
- Marcel Nelen,
- Helger Yntema,
- Erik-Jan Kamsteeg,
- Rolph Pfundt,
- Christian Gilissen
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.10 Jul 2021Submitted to Human Mutation 12 Jul 2021Submission Checks Completed
12 Jul 2021Assigned to Editor
02 Aug 2021Reviewer(s) Assigned
16 Sep 2021Review(s) Completed, Editorial Evaluation Pending
08 Oct 2021Editorial Decision: Revise Major
07 Jan 20221st Revision Received
12 Jan 2022Submission Checks Completed
12 Jan 2022Assigned to Editor
25 Jan 2022Reviewer(s) Assigned
13 Feb 2022Review(s) Completed, Editorial Evaluation Pending
18 Feb 2022Editorial Decision: Accept