Hereditary Cancer Diagnostics with I2HCP Data Access Comitee

Conxi Lázaro
clazaro@iconcologia.net

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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