Hereditary Cancer Diagnostics with I2HCP Data Access Comitee

Dac ID Contact Person Email Access Information
EGAC00001001541 Conxi Lázaro clazaro [at] iconcologia [dot] net No additional information is available

This DAC controls 1 dataset:

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