EGAC00001000493

EGAC00001000493

DAC Accession Contact Person Email Access Information
EGAC00001000493 Prof. Edwin-Chan hyechan@cuhk.edu.hk http://www.ebi.ac.uk/ega/dacs/EGAC00001000493

This DAC controls 1 datasets:

Dataset Accessionsort descending Technology Samples Description
EGAD00001002146 HiSeq X Ten; 4 The dataset contains the whole genome sequencing data of a family with two unaffected parents and two probands that showed Hereditary spastic paraplegias symptoms. Sequencing reads were aligned to human genome (GRCh38) using BWA-MEM, followed by indel-realignment and PCR-duplicates marking. Alignment results are available for download in BAM format.

DAC description