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

Prof. Edwin-Chan
hyechan@cuhk.edu.hk

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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