Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Vo, Ngoc, LDT; Osei, R; Dohr, K; Olsen, C; Seneca, S; Gheldof, A.
EDIR: exome database of interspersed repeats.
Bioinformatics. 2023; 39(1):
Doi: 10.1093/bioinformatics/btac771
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- Co-Autor*innen der Med Uni Graz
- Dohr Katrin Andrea
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- Abstract:
- MOTIVATION: Intragenic exonic deletions are known to contribute to genetic diseases and are often flanked by regions of homology. RESULTS: In order to get a more clear view of these interspersed repeats encompassing a coding sequence, we have developed EDIR (Exome Database of Interspersed Repeats) which contains the positions of these structures within the human exome. EDIR has been calculated by an inductive strategy, rather than by a brute force approach and can be queried through an R/Bioconductor package or a web interface allowing the per-gene rapid extraction of homology-flanked sequences throughout the exome. AVAILABILITY AND IMPLEMENTATION: The code used to compile EDIR can be found at https://github.com/lauravongoc/EDIR. The full dataset of EDIR can be queried via an Rshiny application at http://193.70.34.71:3857/edir/. The R package for querying EDIR is called 'EDIRquery' and is available on Bioconductor. The full EDIR dataset can be downloaded from https://osf.io/m3gvx/ or http://193.70.34.71/EDIR.tar.gz. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
- Find related publications in this database (using NLM MeSH Indexing)
- Humans - administration & dosage
- Exome - administration & dosage
- Software - administration & dosage
- Databases, Factual - administration & dosage
- Exons - administration & dosage