Whole genome sequencing for novel neuromuscular disease gene discovery

Study ID Alternative Stable ID Type
EGAS00001004535 Other

Study Description

This peripheral neuropathy patient underwent whole genome sequencing to find the cause of their disease. They were undiagnosed by current standard-of-care practice, which is neurogenetic panel screening. This is a paediatric case.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
Whole genome sequencing data on D19-0702 (AUS1), presented in Martin et al. 2020 (AUS1). WGS (Illumina HiSeq) was performed at Kinghorn Centre for Clinical Genetics, Garvan Institute of Medical Research. Data was analyzed using the Seave bioinformatic analysis pipeline (

Who archives the data?

There are no publications available