Study

Neuromics / RD-Connect - Huntington's disease

Study ID Alternative Stable ID Type
EGAS00001000698 Other

Study Description

This study contains omics datasets from the Neuromics project (www.rd-neuromics.eu) on rare neuromuscular and neurodegenerative disorders. Data includes BAM and VCF files from whole-exome sequencing and standardised phenotypic data mapped to the human phenotype ontology (HPO). In some cases proteomic, transcriptomic and metabolomic data may also be available. This study groups together datasets from individuals with a Huntington's disease phenotype and also includes some unaffected family members. Search under the Neuromics name to find related studies for other neuromuscular and neurodegenerative disorders.

Study Datasets 2 datasets.

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
EGAD00001002695
48 samples from the TRACK-HD cohort. All samples carry the Huntington’s disease expansion. The subjects were selected on the basis of rate of disease progression.
Illumina HiSeq 2000 48
EGAD00001002699
This data set includes RNAseq data from 136 samples from the TRACK-HD cohort including premanifest, manifest and control subjects. Data can only be used for Huntington's disease related research.
Illumina HiSeq 2500 136

Who archives the data?

There are no publications available