The Chinese University of Hong Kong Hereditary Spastic Paraplegia Data Access Committee

Dac ID Contact Person Email Access Information
EGAC00001000493 Prof. Edwin-Chan hyechan [at] cuhk [dot] edu [dot] hk No additional information is available

This DAC controls 2 datasets:

Dataset ID Description Technology Samples
EGAD00001002146 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. HiSeq X Ten 4
EGAD00001005114 A targeted gene panel that covers coding, noncoding, and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases NextSeq 500 136