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A collection of 142 samples used to evaluate the sensitivity and specificity of small-scale variation detection in exome-capture data with a particular focus on indel detection.

The dataset includes exome sequencing data and 704 Sanger sequencing validations for the 142 samples. The 704 Sanger sequencing validations are comprised of 416 variants and 288 sites known to be negative, including 293 indels and 247 negative indel sites. DNA libraries were prepared from genomic DNA using the Illumina TruSeq sample preparation kit. DNA was fragmented using Covaris technology and the libraries were prepared without gel size selection. Target enrichment was performed in pools of six libraries using the Illumina TruSeq Exome Enrichment kit. The captured DNA libraries were PCR amplified using the supplied paired-end PCR primers. Sequencing was performed with an Illumina HiSeq2000 (v3 flow cell, one pool per lane) generating 2x101-bp reads. Technology – Illumina HiSeq 2000

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001462 Illumina HiSeq 2500 142
Publications Citations
The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.
F1000Res 5: 2016 386
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ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
Wellcome Open Res 3: 2018 108
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