The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a single exon is involved. Many different NGS exon C...

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Detalhes bibliográficos
Publicado no:Wellcome Open Res
Main Authors: Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Ramsay, Emma, Uddin, Imran, Wylie, Harriett, Elliott, Anna, Strydom, Ann, Renwick, Anthony, Seal, Sheila, Rahman, Nazneen
Formato: Artigo
Idioma:Inglês
Publicado em: F1000Research 2017
Assuntos:
Data Note
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473400/
https://ncbi.nlm.nih.gov/pubmed/28630945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.11689.1
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