Overview
To access the full dataset, please log into DSS and submit an application.
Within the application, add this dataset (accession NG00082) in the “Choose a Dataset” section.
Once approved, you will be able to log in and access the data within the DARM portal.
This dataset was originally published on the NIAGADS archive site and was moved to DSS on 03/31/2025.
Description
This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition, relatives of probands are also sequenced when available. When a diagnostic genetic variant is identified, the result is validated with clinical sanger and the result is returned to the patient. Patients for which a diagnostic variant is not identified are available for analysis in larger case-control studies if consent is given to do so.
Whole Genome Sequences:
Sequencing libraries were prepared by Covaris shearing, end repair, adapter ligation, and PCR using standard protocols. Library concentrations were normalized using KAPA qPCR prior to sequencing.
Exomes:
Variants were genotyped using Integrated DNA Technologies xGen Exome Hyb Panel v2 at 100x coverage.
Sample Summary per Data Type
| Sample Set | Accession | Data Type | Number of Samples |
|---|---|---|---|
| UAB/HudsonAlpha Families with Neurodegenerative Diseases - Set1 (2019) | snd10115 | WGS | 61 |
| UAB/HudsonAlpha Families with Neurodegenerative Diseases - Set2 (2024) | snd10116 | WGS, WES | 87 |
Available Filesets
| Name | Accession | Latest Release | Description |
|---|---|---|---|
| UAB/HudsonAlpha Families with Neurodegenerative Diseases | fsa000125 | NG00082.v1 | individual-level FASTQ files, manifests and phenotypic information |
View the File Manifest for a full list of files released in this dataset.