A high-throughput molecular data resource for cutaneous neurofibromas

Sara J.C. Gosline; Hubert Weinberg; Pamela Knight; Thomas Yu; Xindi Guo; Nripesh Prasad; Angela Jones; Shristi Shrestha; Braden Boone; Shawn E. Levy; Salvatore La Rosa; Justin Guinney; Annette Bakker

doi:10.1038/sdata.2017.45

A high-throughput molecular data resource for cutaneous neurofibromas

Sara J.C. Gosline, Hubert Weinberg, Pamela Knight, Thomas Yu, Xindi Guo, Nripesh Prasad, Angela Jones, Shristi Shrestha, Braden Boone, Shawn E. Levy, Salvatore La Rosa, Justin Guinney, Annette Bakker

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13 Scopus citations

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.

Original language	English
Article number	170045
Journal	Scientific data
Volume	4
DOIs	https://doi.org/10.1038/sdata.2017.45
State	Published - 11 Apr 2017

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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.",

author = "Gosline, {Sara J.C.} and Hubert Weinberg and Pamela Knight and Thomas Yu and Xindi Guo and Nripesh Prasad and Angela Jones and Shristi Shrestha and Braden Boone and Levy, {Shawn E.} and {La Rosa}, Salvatore and Justin Guinney and Annette Bakker",

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doi = "10.1038/sdata.2017.45",

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AU - Gosline, Sara J.C.

AU - Weinberg, Hubert

AU - Knight, Pamela

AU - Yu, Thomas

AU - Guo, Xindi

AU - Prasad, Nripesh

AU - Jones, Angela

AU - Shrestha, Shristi

AU - Boone, Braden

AU - Levy, Shawn E.

AU - La Rosa, Salvatore

AU - Guinney, Justin

AU - Bakker, Annette

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AB - 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.

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A high-throughput molecular data resource for cutaneous neurofibromas

Abstract

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