Clinical exome sequencing-Mistakes and caveats.
Hum Mutat
; 43(8): 1041-1055, 2022 08.
Article
em En
| MEDLINE
| ID: mdl-35191116
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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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sequenciamento de Nucleotídeos em Larga Escala
/
Exoma
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article