The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data [version 1; referees: 2 approved]

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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Egile Nagusiak:	Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wellcome 2017-05-01
Saila:	Wellcome Open Research
Gaiak:	Genomics Medical Genetics
Sarrera elektronikoa:	https://wellcomeopenresearch.org/articles/2-35/v1
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