The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.
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ABSTRACT:
SUBMITTER: Ruark E
PROVIDER: S-EPMC4857748 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.
Ruark Elise E Renwick Anthony A Clarke Matthew M Snape Katie K Ramsay Emma E Elliott Anna A Hanks Sandra S Strydom Ann A Seal Sheila S Rahman Nazneen N
F1000Research 20160322
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 which variants were called by an NGS analysis tool, but no variant is present in the corresponding Sanger sequence. The dataset includes 293 indel variants and 247 negative indel sites, and thus the ICR1 ...[more]
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