Sample-Index Misassignment Impacts Tumour Exome Sequencing.
Sci Rep
; 8(1): 5307, 2018 03 28.
Article
em En
| MEDLINE
| ID: mdl-29593270
ABSTRACT
Sample pooling enabled by dedicated indexes is a common strategy for cost-effective and robust high-throughput sequencing. Index misassignment leading to mutual contamination between pooled samples has however been described as a general problem of the latest Illumina sequencing instruments utilizing exclusion amplification. Using real-life data from multiple tumour sequencing projects, we demonstrate that index misassignment can induce artefactual variant calls closely resembling true, high-quality somatic variants. These artefactual calls potentially impact cancer applications utilizing low allelic frequencies, such as in clonal analysis of tumours. We discuss the available countermeasures with an emphasis on improved library indexing methods, and provide software that can assist in the identification of variants that may be consequences of index misassignment.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de DNA
/
Sequenciamento do Exoma
Limite:
Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article