DAC

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

Dac ID Contact Person Email Access Information
EGAC00001001792 Ivo Buchhalter daco [at] dkfz [dot] de No additional information is available

This DAC controls 1 dataset:

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