Study
CNV detection in targeted NGS panel data
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001002481 | Other |
Study Description
The aim of this study was to compare copy-number-variation (CNV) detection methods for targeted NGS panel data in a clinical diagnostic setting. We present targeted NGS panel data from 170 samples that were processed using the TruSight(TM) Cancer (TSC) panel (Illumina, San Diego, CA, USA), which targets 94 genes and 284 SNPs associated with a predisposition towards cancer. The samples are enriched for CNVs in the genes of interest. All CNVs have previously been assessed with MLPA and can therefore be considered as confirmed.
Study Datasets 1 dataset.
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| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001003400 |
We present targeted NGS panel data from 170 samples that were processed using the TruSightTM Cancer (TSC) panel (Illumina, San Diego, CA, USA), which targets 94 genes and 284 SNPs associated with a predisposition towards cancer. The samples are enriched for CNVs in the genes of interest. All CNVs have previously been assessed with MLPA and can therefore be considered as confirmed.
|
Illumina MiSeq | 170 |
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