Targeted Gene Panel Sequencing Data of RELN paper - Meyer Children's Hospital IRCCS

Dataset description

The dataset has been prepared according the Minimal Information about a high throughput SEQuencing Experiment (MINSEQE) as reported in: https://doi.org/10.5281/zenodo.5706412

This dataset includes:

The Targeted Gene Panel Sequencing Raw Data (FASTQ files) from two individuals harbouring RELN variants

The ‘final’ processed data, submitted both as VCF and TXT files, and obtained from the ANNOVAR annotations of the two patients

The gene panel list used in the targeted capture and the essential experimental and data processing protocols has been reported in the RELN paper.

Identifiers

The 444D indentifier correspond to DN1 patient in the RELN paper.

Tissue: peripheral blood sample

Sex: female

Age at sequencing: 21 years

The 528T indentifier correspond to DN2 patient in the RELN paper.

Tissue: peripheral blood sample

Sex: female

Age at sequencing: 1.5 years