Dystonia-Pakistan-XI054-neurodegeneration-Ivo-Buchhalter-Jakob-von-Engelhardt-DAC

Ivo Buchhalter
daco@dkfz.de

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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