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Whole Exome Sequencing in Familial Parkinson Disease

ABSTRACT:

We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.

PROVIDER: phs000376 | dbGaP |

SECONDARY ACCESSION(S): PRJNA75903PRJNA75901

REPOSITORIES: dbGaP

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs000376.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000376.CIDR_PD_Exome.v1.p1.MULTI.pdf	Pdf
	manifest_phs000376.CIDR_PD_Exome.v1.p1.c1.DS-PDND.pdf	Pdf
	manifest_phs000376.CIDR_PD_Exome.v1.p1.c1.PDND.pdf	Pdf

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