Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
Abstract
:1. Introduction
2. NGS Impact on NDD Diagnosis
2.1. Whole Exome Sequencing and the Discoveries of New Variants
2.2. Sequencing Contribution in Guiding Biological Questions
2.3. NGS and Non-Coding Variant Interpretation
3. NGS in Experimental Modelling of NDDs
3.1. Transcriptomic Analysis
3.2. Epigenome Studies
3.3. D Chromatin Structure Investigation
3.4. Single-Cell Approaches
4. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Zaghi, M.; Banfi, F.; Bellini, E.; Sessa, A. Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era. Biomolecules 2021, 11, 1713. https://doi.org/10.3390/biom11111713
Zaghi M, Banfi F, Bellini E, Sessa A. Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era. Biomolecules. 2021; 11(11):1713. https://doi.org/10.3390/biom11111713
Chicago/Turabian StyleZaghi, Mattia, Federica Banfi, Edoardo Bellini, and Alessandro Sessa. 2021. "Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era" Biomolecules 11, no. 11: 1713. https://doi.org/10.3390/biom11111713