Study
Second hit rare genetic variants in families with seemingly GBA gene associated Parkinson’s disease
Study ID | Alternative Stable ID | Type |
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EGAS00001004777 | Whole Genome Sequencing |
Study Description
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
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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.
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HiSeq X Ten | 6 |
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