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 Datasets 1 dataset.
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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.||HiSeq X Ten||6|
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Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
NPJ Genom Med 6:2021 2