CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Hum Mutat
; 37(5): 457-64, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-26864275
ABSTRACT
We have developed a tool for detecting single exon copy-number variations (CNVs) in targeted next-generation sequencing data CoNVaDING (Copy Number Variation Detection In Next-generation sequencing Gene panels). CoNVaDING includes a stringent quality control (QC) metric, that excludes or flags low-quality exons. Since this QC shows exactly which exons can be reliably analyzed and which exons are in need of an alternative analysis method, CoNVaDING is not only useful for CNV detection in a research setting, but also in clinical diagnostics. During the validation phase, CoNVaDING detected all known CNVs in high-quality targets in 320 samples analyzed, giving 100% sensitivity and 99.998% specificity for 308,574 exons. CoNVaDING outperforms existing tools by exhibiting a higher sensitivity and specificity and by precisely identifying low-quality samples and regions.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de DNA
/
Predisposição Genética para Doença
/
Variações do Número de Cópias de DNA
/
Sequenciamento de Nucleotídeos em Larga Escala
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article