DAC
Laboratory of Medical Genetics - Department of Precision Medicine
Dac ID | Contact Person | Access Information | |
---|---|---|---|
EGAC00001000936 | Giulio Piluso | giulio [dot] piluso [at] unicampania [dot] it | No additional information is available |
This DAC controls 1 dataset:
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001004157 | Five subjects from pedigree with co-occurrence of neurofibromatosis type 1 and moyamoya were sequenced in duplicate (0 and1). Kinship and phenotype: NF025, NF026 and NF027 were sibling all affected by neurofibromatosis type 1. NF026 also presented moyamoya. NF0262 and NF0263 were sibling both affected by neurofibromatosis type 1. NF0262 also presented moyamoya. NF026 and NF0262 were first cousins. | Illumina HiSeq 1000 | 10 |