Study

Second hit rare genetic variants in families with seemingly GBA gene associated Parkinson’s disease

Study ID Alternative Stable ID Type
EGAS00001004777 Whole Genome Sequencing

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006561 We performed whole- genome sequencing, rare variant filtering, segregation analysis and functional validation of PD cosegregating rare genetic variation in two families (6 samples) segregating PD associated GBA variants c.115+1G>A (ClinVar ID: 93445, ) and p.L444P (ClinVar ID: 4288) respectively. The paired WGS sequencing was run on HiSeq X Ten and the library preparation kit was Illumina TruSeq DNA nano. HiSeq X Ten 6

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Publications

Publications Citations
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
NPJ Genom Med 6:2021 2
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