Niccolò Liorni

Niccolò Liorni
IRCCS Ospedale Casa Sollievo della Sofferenza | Opera di Padre Pio · Bioinformatics Unit

Master of Science

About

3
Publications
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Introduction
Skills and Expertise
Additional affiliations
September 2021 - October 2024
Sapienza University of Rome
Position
  • PhD Student
Description
  • PhD student in Medical Genetics

Publications

Publications (3)
Preprint
Human-induced pluripotent stem cells (iPSCs) can be derived from adult stem cells by forced expression of defined transcription factors. This paves the way for autologous iPSC-derived therapies, which, however, are not yet considered safe. Moreover, reprogramming of somatic cells into iPSCs is an inefficient process, in the range of 0.1%–1%. The ep...
Article
KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease; it is also a known cancer driver gene, with multiple somatic mutations found in a few cancer types. In this study, we looked at eleven missense variants in lung squamous cell carcinoma, one of the most common lung cancer subtypes, to see how they affect the K...
Article
The recent identification of non‐coding variants with pathogenic effects suggests that these variations could underlie a significant number of undiagnosed cases. Several computational methods have been developed to predict the functional impact of non‐coding variants, but they exhibit only partial concordance and are not integrated with functional...

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Projects

Project (1)
Project
MitImpact is a collection of pre-computed pathogenicity predictions for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes. It is freely available at: http://mitimpact.css-mendel.it