文章基本信息

标题：A high-throughput molecular data resource for cutaneous neurofibromas
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作者：Sara J.C. Gosline ; Hubert Weinberg ; Pamela Knight 等
期刊名称：Scientific Data
电子版ISSN：2052-4463
出版年度：2017
卷号：4
DOI：10.1038/sdata.2017.45
语种：English
出版社：Nature Publishing Group
摘要：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.