Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2023 Sep 25;13(10):1441.
doi: 10.3390/biom13101441.

Advance in Genomics of Rare Genetic Diseases

Elena Sommariva  1 , Milena Bellin  2   3   4 , Chiara Di Resta  5   6
Affiliations
Editorial

Advance in Genomics of Rare Genetic Diseases

Elena Sommariva et al. Biomolecules. .

Abstract

Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...].

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The rare-disease-centered approach of the genomic era. Different study approaches (in green) can be exploited to achieve a better characterization and subsequent management (in blue) of patients affected by rare diseases (in red).
See this image and copyright information in PMC

References

    1. Nguengang Wakap S., Lambert D.M., Olry A., Rodwell C., Gueydan C., Lanneau V., Murphy D., Le Cam Y., Rath A. Estimating cumulative point prevalence of rare diseases: Analysis of the Orphanet database. Eur. J. Hum. Genet. EJHG. 2020;28:165–173. doi: 10.1038/s41431-019-0508-0. - DOI - PMC - PubMed
    1. Kricka L.J., Di Resta C. Translating genes into health. Nat. Genet. 2013;45:4–5. doi: 10.1038/ng.2510. - DOI - PubMed
    1. 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. doi: 10.3390/biom11111713. - DOI - PMC - PubMed
    1. Kõks S. Genomics of Wolfram Syndrome 1 (WFS1) Biomolecules. 2023;13:1346. doi: 10.3390/biom13091346. - DOI - PMC - PubMed
    1. Shen X., Zhang J., Zhan F., Tian W., Jiang Q., Luan X., Zhang X., Cao L. Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series. Biomolecules. 2022;12:1382. doi: 10.3390/biom12101382. - DOI - PMC - PubMed

Publication types

LinkOut - more resources