Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes
The global distribution of coverage gaps appears strongly influenced by batch-specific effects, making the occurrence of LCRs partly unpredictable even within clinically relevant gene sets. These findings support systematic assessment of LCRs as a component of quality evaluation in diagnostic sequencing workflows.
Authors
- Alessandro Mattiaccio (ORCID: https://orcid.org/0000-0002-0193-8944)
- Federica Isidori (ORCID: https://orcid.org/0000-0001-5934-3030)
- Claudia De Masi (ORCID: https://orcid.org/0000-0001-9677-9554)
- Tommaso Pippucci (ORCID: https://orcid.org/0000-0001-7737-7963)
- Emanuela Iovino (ORCID: https://orcid.org/0000-0002-2971-9911)
- Marco Seri
- Anna Ballestrazzi
Institutions
- Azienda USL di Bologna (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Genes
- Published
- 2026-02-26
- DOI
- https://doi.org/10.3390/genes17030269
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00