Laboratory of Medical Genetics - Department of Precision Medicine

Dac ID	Contact Person	Email	Access Information
EGAC00001000936	Giulio Piluso	giulio [dot] piluso [at] unicampania [dot] it	No additional information is available

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

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

DAC

This DAC controls 1 dataset:

The European Genome-phenome Archive (EGA) is part of the ELIXIR infrastructure.