Saliva as a comparable-quality source of DNA for Whole Exome Sequencing on Ion platforms.
Genomics
; 112(2): 1437-1443, 2020 03.
Article
em En
| MEDLINE
| ID: mdl-31445087
ABSTRACT
BACKGROUND:
Whole Exome Sequencing (WES) utilises overlapping fragments prone to sequencing artefacts. Saliva, a non-invasive source of DNA, has been successfully used in WES studies on various platforms. This study explored the validity and quality of DNA sourced from saliva compared to whole blood on an Ion Platform.METHODS:
DNA was extracted from both sample types from four individuals. WES, performed on the Ion Proton platform was assessed for quality metrics (Depth, Genotyping Quality, etc.) and variant identification for the same source sample-pairs.RESULTS:
No significant differences in quality metrics were identified between data obtained from whole blood and saliva samples, with several saliva samples demonstrating higher coverage depth. Variants within the same sample, from the two genomic DNA sources, had an average concordance similar to other studies and platforms with different chemistry.CONCLUSION:
Saliva-extracted DNA provides comparable sequencing quality to whole blood for WES on Ion Torrent Platforms.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Saliva
/
DNA
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Sequenciamento do Exoma
Tipo de estudo:
Evaluation_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genomics
Ano de publicação:
2020
Tipo de documento:
Article