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Clinical exome sequencing—Mistakes and caveats.

Authors :
Corominas, Jordi
Smeekens, Sanne P.
Nelen, Marcel R.
Yntema, Helger G.
Kamsteeg, Erik‐Jan
Pfundt, Rolph
Gilissen, Christian
Source :
Human Mutation; Aug2022, Vol. 43 Issue 8, p1041-1055, 15p
Publication Year :
2022

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 10 years of clinical exome sequencing but that have given us important new insights on how to adapt our working methods. We provide these examples and the lessons that we learned to help other laboratories avoid to make the same mistakes. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
10597794
Volume :
43
Issue :
8
Database :
Complementary Index
Journal :
Human Mutation
Publication Type :
Academic Journal
Accession number :
158012443
Full Text :
https://doi.org/10.1002/humu.24360