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Clinical exome sequencing-Mistakes and caveats.

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.

SUBMITTER: Corominas J

PROVIDER: S-EPMC9541396 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Clinical exome sequencing-Mistakes and caveats.

Corominas Jordi J Smeekens Sanne P SP Nelen Marcel R MR Yntema Helger G HG Kamsteeg Erik-Jan EJ Pfundt Rolph R Gilissen Christian C

Human mutation 20220315 8

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 sequen ...[more]

PMID: 35191116

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