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The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 704 sites; 416 sites with variants and 288 sites at whi...

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Detalles Bibliográficos
Autores principales: Ruark, Elise, Renwick, Anthony, Clarke, Matthew, Snape, Katie, Ramsay, Emma, Elliott, Anna, Hanks, Sandra, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857748/
https://www.ncbi.nlm.nih.gov/pubmed/27158454
http://dx.doi.org/10.12688/f1000research.8219.2