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Clinical exome sequencing—Mistakes and caveats

22 Feb 2022

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35191116
DOI: 10.1002/humu.24360

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