Hereditary Cancer Diagnostics with I2HCP gene panel
This dataset contains targetted DNA sequencing data generated in the context of genetic diagnostics of hereditary cancer. Target enrichment was performed with the I2HCP, a custom hereditary cancer gene panel based in Agilent SureSelect and developed by the Germans Trias i Pujol Research Institute (IGTP, Badalona, Catalonia, Spain) and the Catalan Institute of Oncology (ICO, L'Hospitalet de Llobregat, Catalonia, Spain). After the enrichment, 108 samples were sequenced in Illumina HiSeq machines and 130 in MiSeq machines. Some of the samples were sequenced on both platforms. The dataset also includes MLPA validation data for all identified copy-number alterations, annotated with exon resolution and information about negative MLPA results. All this data was generated in the context of routine diagnostics and compiled together with MPLA validation data for a genetic diagnostics oriented benchmark of germline CNV calling tools.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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 |
---|---|---|---|
EGAD00001006171 | Illumina HiSeq 2500 Illumina MiSeq | 188 |
Publications | Citations |
---|---|
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Sci Rep 7: 2017 37984 |
25 |
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Sci Rep 7: 2017 39348 |
22 |
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Eur J Hum Genet 28: 2020 1645-1655 |
50 |
Detection of germline CNVs from gene panel data: benchmarking the state of the art.
Brief Bioinform 26: 2024 bbae645 |
0 |