title: A high-throughput molecular data resource for cutaneous neurofibromas.
abstract: Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients. Data collected from each tumour includes (1) SNP Arrays, (2) Whole genome sequencing (WGS) and (3) RNA-Sequencing. These data are now freely available for further analysis at http://www.synapse.org/cutaneousNF.
authors.affiliation: Computational Oncology, Sage Bionetworks, Seattle, Washington 98109, USA.
authors.forename: Sara J C
authors.initials: SJ
authors.lastname: Gosline
authors.affiliation: Plastic and Reconstructive Surgery, Mount Sinai Medical Center, New York, New York 10028, USA.
authors.forename: Hubert
authors.initials: H
authors.lastname: Weinberg
authors.affiliation: Children's Tumour Foundation, New York, New York 10005, USA.
authors.forename: Pamela
authors.identifier: 0000-0002-1551-7550
authors.initials: P
authors.lastname: Knight
authors.affiliation: Computational Oncology, Sage Bionetworks, Seattle, Washington 98109, USA.
authors.forename: Thomas
authors.identifier: 0000-0002-5841-0198
authors.initials: T
authors.lastname: Yu
authors.affiliation: Computational Oncology, Sage Bionetworks, Seattle, Washington 98109, USA.
authors.forename: Xindi
authors.initials: X
authors.lastname: Guo
authors.affiliation: Hudson-Alpha, Huntsville, Alabama 35806, USA.
authors.forename: Nripesh
authors.initials: N
authors.lastname: Prasad
authors.affiliation: Hudson-Alpha, Huntsville, Alabama 35806, USA.
authors.forename: Angela
authors.initials: A
authors.lastname: Jones
authors.affiliation: Hudson-Alpha, Huntsville, Alabama 35806, USA.
authors.forename: Shristi
authors.initials: S
authors.lastname: Shrestha
authors.affiliation: Hudson-Alpha, Huntsville, Alabama 35806, USA.
authors.forename: Braden
authors.initials: B
authors.lastname: Boone
authors.affiliation: Hudson-Alpha, Huntsville, Alabama 35806, USA.
authors.forename: Shawn E
authors.initials: SE
authors.lastname: Levy
authors.affiliation: Children's Tumour Foundation, New York, New York 10005, USA.
authors.forename: Salvatore
authors.initials: S
authors.lastname: La Rosa
authors.affiliation: Computational Oncology, Sage Bionetworks, Seattle, Washington 98109, USA.
authors.forename: Justin
authors.initials: J
authors.lastname: Guinney
authors.affiliation: Children's Tumour Foundation, New York, New York 10005, USA.
authors.forename: Annette
authors.initials: A
authors.lastname: Bakker
mesh_terms: D004273:DNA, Neoplasm; D006801:Humans; D046228:Microarray Analysis; D009455:Neurofibroma / Q000235:genetics / Q000378:metabolism; D010865:Pilot Projects; D017423:Sequence Analysis, RNA; D012878:Skin Neoplasms / Q000235:genetics / Q000378:metabolism
chemical_list: D004273:DNA, Neoplasm