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Study Description

This sub-study phs001103 PD Exome contains whole exome sequence data and selected phenotype of subjects available from the phs001103 study. Summary level phenotypes for the NINDS Parkinson's Disease Cohort participants can be viewed at the top-level study page phs001172 NINDS Parkinson's Disease Cohort. Individual level phenotype data and molecular data for all NINDS Parkinson's Disease Cohort top-level study and sub-study are available by requesting Authorized Access to the NINDS Parkinson's Disease Cohort phs001172 study.

Genome wide exome DNA sequencing was done in 618 Parkinson's disease samples deposited in Coriell NINDS repository. The DNA comes from a mixture of blood, and from cell lines (lymphoblast cell lines) derived from blood. The exome sequencing data was generated and provided by the laboratory of Neurogenetics lead by Dr. Andrew Singleton, NIA, NIH.

Authorized Access
Publicly Available Data
  Link to other NCBI resources related to this study
Study Inclusion/Exclusion Criteria

In order to be included in the Parkinson's disease collection, all cases are evaluated by a neurologist. Each participant is evaluated for Parkinson's disease, and meets either the Gelb criteria or the UK Brain Bank Criteria (both below). Disease onset is defined as the time when symptoms of the disease were first noted, including at least one of the following: resting tremor, rigidity, bradykinesia, gait disorder, and postural instability.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Sequencing Illumina TruSeq N/A N/A
Whole Exome Sequencing Roche NimbleGen SeqCap EZ Human Exome Library v1.0 N/A N/A
Whole Exome Sequencing Roche NimbleGen SeqCap EZ Human Exome Library v2.0 N/A N/A
Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Dr. Andrew Singleton. National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.