Maximizing utility of Neurofibromatosis genomic data through the NF Data Portal and cBioPortal

•Neurofibromatosis type 1 (NF1), a member of the Neurofibromatosis rare disease family, affects approximately 1 in 3500 people and has very few therapeutic options 1. •Various studies are generating valuable genomic data from patients and experimental models representing NF1 biology to investigate t...

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Hauptverfasser: BANERJEE, JINETA, Grande, Bruno M., Vu, Anh Nguyet, Pollard, Kai, Calizo, Ana, Makri, Stavriani, Scott, Sasha, Conrad, Christina, Jobe, Sophia L, Yu, Thomas, Lee, Sang Y., O'Connor, Brian, Bletz, Julie, Blakely, Jaishri O., Pratilas, Christine A., Allaway, Robert J.
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Sprache:eng
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Zusammenfassung:•Neurofibromatosis type 1 (NF1), a member of the Neurofibromatosis rare disease family, affects approximately 1 in 3500 people and has very few therapeutic options 1. •Various studies are generating valuable genomic data from patients and experimental models representing NF1 biology to investigate the underlying disease mechanism and discover potential therapeutic candidates. •Omic’s methods generate high-dimensional data (i.e., data containing many features)2. This high dimensionality makes analysis and interpretation of data from small sample sizes challenging and makes it important to aggregate multiple datasets to build larger datasets appropriate for analysis. • We aim to process genomic and transcriptomic data from disparate studies in a standardized way and submit to cBioPortal to enable researchers examine and compare their own data with data from other research groups.
DOI:10.6084/m9.figshare.23582376