Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN

Background: Targeted next generation sequencing (NGS) panels are increasingly being used in clinical genomics to increase capacity, throughput and affordability of gene testing. Identifying whole exon deletions or duplications (termed exon copy number variants, ‘exon CNVs’) in exon-targeted NGS pane...

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Detalles Bibliográficos
Autores principales: Fowler, Anna, Mahamdallie, Shazia, Ruark, Elise, Seal, Sheila, Ramsay, Emma, Clarke, Matthew, Uddin, Imran, Wylie, Harriet, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2016
Materias:
Method Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409526/
https://www.ncbi.nlm.nih.gov/pubmed/28459104
http://dx.doi.org/10.12688/wellcomeopenres.10069.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409526/
https://www.ncbi.nlm.nih.gov/pubmed/28459104
http://dx.doi.org/10.12688/wellcomeopenres.10069.1

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