Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
Our study revealed that introducing distance variance, intersection, gene overlap and the closest SV in the clinical database may help compare and annotate SVs in diagnostics. Our data showed that LRS together with T2T-CHM13 gapless sequences can improve the diagnostics of patients with human diseases when SRS fails to identify the cause.
Authors
- Eva Kriegová (ORCID: https://orcid.org/0000-0002-8969-4197)
- Tomáš Papajík (ORCID: https://orcid.org/0000-0001-5779-1139)
- Jirina Manakova (ORCID: https://orcid.org/0000-0001-6931-5666)
- Anna Petráčková (ORCID: https://orcid.org/0000-0001-5210-4504)
- Jakub Savara (ORCID: https://orcid.org/0000-0003-3067-7867)
- Marek Běhálek (ORCID: https://orcid.org/0000-0002-9204-2691)
- Tomáš Novosad
- Petr Gajdoš
- Filip Čtvrtlík
- Jiri Minarik
Institutions
- VSB - Technical University of Ostrava (CZ)
- University Hospital Olomouc (CZ)
- Palacký University Olomouc (CZ)
Publication Details
- Journal
- GigaScience
- Published
- 2026-03-07
- DOI
- https://doi.org/10.1093/gigascience/giag027
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00