Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases
Efthalia Moustakli, Nektaria Zagorianakou, Stylianos Makrydimas, Andreas Miltiadous, Alexandros T Tzallas, George Makrydimas, Grzegorz Wegrzyn · 2025
Read Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases by Efthalia Moustakli, Nektaria Zagorianakou, Stylianos Makrydimas, Andreas Miltiadous, Alexandros T Tzallas, George Makrydimas, Grzegorz Wegrzyn (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12731521.txt.
Description
Efthalia Moustakli and six co-authors look beyond the exome in a 2025 review of noncoding and regulatory variants in single-gene diseases. For years, the hunt for the cause of such diseases read the coding parts of genes. Yet exome tests on their own leave up to half of suspect cases with no answer.
Changes past the exome can break splicing, change how long a message lasts, or tune how a gene is read. The review names sites of that kind: gene switches, enhancers, deep intron parts, and small RNAs. Named diseases show how each path can drive real harm.
Catalog record
| CREATOR | Efthalia Moustakli, Nektaria Zagorianakou, Stylianos Makrydimas, Andreas Miltiadous, Alexandros T Tzallas, George Makrydimas, Grzegorz Wegrzyn |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 57 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |