Hereditary Cancer Diagnostics with I2HCP gene panel

Dataset ID Technology Samples
EGAD00001006171 Illumina HiSeq 2500,Illumina MiSeq 188

Dataset Description

Germline blood DNA sequencing data generated in routine diagnostics of hereditary cancer using the I2HCP gene panel (~135 genes). There are 130 samples sequenced in a MiSeq machine and 108 sequenced in a HiSeq machine. There is a partial overlap between those two sets, meaning that some samples were sequenced in both machines. There is a strong enrichment in samples with copy-number variants (CNV), both single- and multi-exon, since this dataset was compiled for a benchmarking effort of CNV calling tools for genetic diagnostics.

Data Use Conditions


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Label Code Version Modifier
no restriction DUO:0000004 2019-01-07
project specific restriction DUO:0000027 2019-01-07