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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Detalhes bibliográficos
Publicado no:Wellcome Open Res
Main Authors: Fowler, Anna, Mahamdallie, Shazia, Ruark, Elise, Seal, Sheila, Ramsay, Emma, Clarke, Matthew, Uddin, Imran, Wylie, Harriet, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Formato: Artigo
Idioma:Inglês
Publicado em: F1000Research 2016
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Method Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5409526/
https://ncbi.nlm.nih.gov/pubmed/28459104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.10069.1
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