Clinical exome sequencing—Mistakes and caveats

2022/02/22 by Jordi Corominas, Sanne P. Smeekens, Marcel Nelen +5 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Genomics and Diagnostics #Genetic factors in colorectal cancer #Genomics and Rare Diseases

paper · pdf · doi:10.1002/humu.24360

openalex publication_date 2022/02/22 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/30

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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