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FINDER: an automated software package to annotate eukaryotic genes from RNA-Seq data and associated protein sequences
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Abstract
Background: Gene annotation in eukaryotes is a non-trivial task that requires meticulous analysis of accumulated transcript data. Challenges include transcriptionally active regions of the genome that contain overlapping genes, genes that produce numerous transcripts, transposable elements and numerous diverse sequence repeats. Currently available gene annotation software applications depend on pre-constructed full-length gene sequence assemblies which are not guaranteed to be error-free. The origins of these sequences are often uncertain, making it difficult to identify and rectify errors in them. This hinders the creation of an accurate and holistic representation of the transcriptomic landscape across multiple tissue types and experimental conditions. Therefore, to gauge the extent of diversity in gene structures, a comprehensive analysis of genome-wide expression data is imperative. Results: We present FINDER, a fully automated computational tool that optimizes the entire process of annotating genes and transcript structures. Unlike current state-of-the-art pipelines, FINDER automates the RNA-Seq pre-processing step by working directly with raw sequence reads and optimizes gene prediction from BRAKER2 by supplementing these reads with associated proteins. The FINDER pipeline (1) reports transcripts and recognizes genes that are expressed under specific conditions, (2) generates all possible alternatively spliced transcripts from expressed RNA-Seq data, (3) analyzes read coverage patterns to modify existing transcript models and create new ones, and (4) scores genes as high- or low-confidence based on the available evidence across multiple datasets. We demonstrate the ability of FINDER to automatically annotate a diverse pool of genomes from eight species. Conclusions: FINDER takes a completely automated approach to annotate genes directly from raw expression data. It is capable of processing eukaryotic genomes of all sizes and requires no manual supervision—ideal for bench researchers with limited experience in handling computational tools.
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FINDER uses RNA-seq assemblies with predicted open reading frames, in conjunction with BRAKER1 and homologous protein predictions.
“FINDER follows an approach similar to BRAKER3. It uses RNA-seq assemblies with predicted open reading frames, in conjunction with BRAKER1 and homologous protein predictions.”
From BRAKER3: Fully automated genome annotation using RNA-seq and protein evidence with GeneMark-ETP, AUGUSTUS, and TSEBRA (2024) · cites this paper as Banerjee et al. 2021
The Implementation section says FINDER assembles RNA-Seq reads into transcripts, predicts their coding regions with GeneMarkS-T, and incorporates protein-derived gene models. It identifies the accompanying gene predictor as BRAKER2, not BRAKER1. (LLM, conf=0.92)
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Opportunities and challenges in long-read sequencing data analysis
Amarasinghe, S. L., Su, S., Dong, X., Zappia, L., Ritchie, M. E., & Gouil, Q. (2020) · Genome Biology · doi:10.1186/s13059-020-1935-5 · Cited by 2,530
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The human transcriptome across tissues and individuals
Melé, M., Ferreira, P. G., Reverter, F., DeLuca, D. S., Monlong, J., Sammeth, M., Young, T. R., Goldmann, J. M., Pervouchine, D. D., Sullivan, T. J., et al. (2015) · Science · doi:10.1126/science.aaa0355 · Cited by 1,304
A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
Irimia, M., Weatheritt, R. J., Ellis, J. D., Parikshak, N. N., Gonatopoulos-Pournatzis, T., Babor, M., Quesnel-Vallières, M., Tapial, J., Raj, B., O’Hanlon, D., et al. (2014) · Cell · doi:10.1016/j.cell.2014.11.035 · Cited by 693
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Laskowski, R. A., Watson, J. D., & Thornton, J. M. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.05.067 · Cited by 213
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Cited by
Sorted by citations
Gabriel, L., Brůna, T., Hoff, K. J., Ebel, M., Lomsadze, A., Borodovsky, M., & Stanke, M. (2024) · Genome Research · doi:10.1101/gr.278090.123 · Cited by 676
PSAURON: a tool for assessing protein annotation across a broad range of species
Sommer, M. J., Zimin, A. V., & Salzberg, S. L. (2025) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqae189 · Cited by 29
Metadata
- Authors
- Banerjee, S., Bhandary, P., Woodhouse, M., Sen, T. Z., Wise, R. P., & Andorf, C. M.
- ORCID
- Andorf, Carson M.
- Venue
- BMC Bioinformatics
- Published
- 2021-04-20
- Volume
- 22
- Issue
- 1
- ISSN
- 1471-2105
- PMC
- PMC8056616
- Cited by
- 35
- References
- 7
- Language
- en
- Funders
- USDA-ARS (5030-21000-068-00D, 3625-21000-067-00D, 2030-21000-024-00D)
- National Science Foundation (1546858)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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