Laboratory of Medical Genetics - Department of Precision Medicine

Giulio Piluso
giulio.piluso@unicampania.it

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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