Clinical Exome Sequencing-Mistakes and Caveats

Overview

Journal Hum Mutat

Specialty Genetics

Date 2022 Feb 22

PMID 35191116

Authors

Jordi Corominas

Sanne P Smeekens

Marcel R Nelen

Helger G Yntema

Erik-Jan Kamsteeg

Rolph Pfundt

Christian Gilissen

Affiliations

Soon will be listed here.

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.

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