Single-cell analysis of plexiform neurofibromas: heterogeneity and tumor cell-of-origin

Pericot Masdevall, Pere

Single-cell analysis of plexiform neurofibromas: heterogeneity and tumor cell-of-origin

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Citation

Pericot Masdevall, P. Single-cell analysis of plexiform neurofibromas: heterogeneity and tumor cell-of-origin. 2022. handle: http://hdl.handle.net/10230/55128

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Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes affected persons to the development of tumors in the peripheral nervous system, including Plexiform Neurofibromas (pNFs). With new emerging genomic and bioinformatics technologies, such as single-cell genomics and epigenomics, different possibilities to interrogate these tumors arise. This project aims to perform an in-depth genomic and bioinformatic analysis of 3 pNFs to characterize the whole transcriptome and genome accessibility profiles at single-cell resolution, allowing us to examine the cellular heterogeneity that exists within them, which can help us better understand their underlying biological structure and characterize the mechanisms by which pNFs arise and develop.