|
10 | 10 |
|
11 | 11 | ## Pipeline tools |
12 | 12 |
|
13 | | -- [FastQC](https://www.bioinformatics.babraham.ac.uk/projects/fastqc/) |
| 13 | +- [nanoq](https://github.com/esteinig/nanoq) |
14 | 14 |
|
15 | | - > Andrews, S. (2010). FastQC: A Quality Control Tool for High Throughput Sequence Data [Online]. |
| 15 | + > Steinig et al., (2022). Nanoq: ultra-fast quality control for nanopore reads. Journal of Open Source Software, 7(69), 2991, https://doi.org/10.21105/joss.02991 |
16 | 16 |
|
17 | | -- [MultiQC](https://pubmed.ncbi.nlm.nih.gov/27312411/) |
| 17 | +- [SEQUALI](https://github.com/rhpvorderman/sequali) |
18 | 18 |
|
19 | | - > Ewels P, Magnusson M, Lundin S, Käller M. MultiQC: summarize analysis results for multiple tools and samples in a single report. Bioinformatics. 2016 Oct 1;32(19):3047-8. doi: 10.1093/bioinformatics/btw354. Epub 2016 Jun 16. PubMed PMID: 27312411; PubMed Central PMCID: PMC5039924. |
| 19 | + > Ruben H P Vorderman, Sequali: efficient and comprehensive quality control of short- and long-read sequencing data, Bioinformatics Advances, Volume 5, Issue 1, 2025, vbaf010, https://doi.org/10.1093/bioadv/vbaf010 |
| 20 | +
|
| 21 | +- [minimap2](https://github.com/lh3/minimap2) |
| 22 | + |
| 23 | + > Li, H. (2018). Minimap2: pairwise alignment for nucleotide sequences. Bioinformatics, 34:3094-3100. doi:10.1093/bioinformatics/bty191 |
| 24 | +
|
| 25 | +- [samtools](https://sourceforge.net/projects/samtools/files/samtools/) |
| 26 | + |
| 27 | + > Li, Heng, et al. "The sequence alignment/map format and SAMtools." bioinformatics 25.16 (2009): 2078-2079. |
| 28 | +
|
| 29 | +- [bedtools](https://github.com/arq5x/bedtools2/) |
| 30 | + |
| 31 | + > Quinlan, Aaron R., and Ira M. Hall. "BEDTools: a flexible suite of utilities for comparing genomic features." Bioinformatics 26.6 (2010): 841-842. |
| 32 | +
|
| 33 | +- [cramino](https://github.com/wdecoster/cramino) |
| 34 | + |
| 35 | + > Wouter De Coster, Rosa Rademakers, NanoPack2: population-scale evaluation of long-read sequencing data, Bioinformatics, Volume 39, Issue 5, May 2023, btad311, https://doi.org/10.1093/bioinformatics/btad311 |
| 36 | +
|
| 37 | +- [alfred](https://www.gear-genomics.com/docs/alfred/) |
| 38 | + |
| 39 | + > Rausch, T., Fritz, M.H., Korbel, J.O. and Benes, V. Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing. Bioinformatics. 2019 Jul 15;35(14):2489-2491. https://doi.org/10.1093/bioinformatics/bty1007 |
| 40 | +
|
| 41 | +- [ngs-bits](https://github.com/imgag/ngs-bits/tree/master) |
| 42 | + |
| 43 | + > Marc Sturm, et al. Imgag/ngs-bits: 2025_09. 2025_09, Zenodo, 25 Sept. 2025, https://doi.org/10.5281/zenodo.17201254. |
| 44 | +
|
| 45 | +- [FLAIR](https://github.com/BrooksLabUCSC/flair) |
| 46 | + |
| 47 | + > Tang, Alison D., et al. "Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns." Nature communications 11.1 (2020): 1438. |
| 48 | +
|
| 49 | +- [bambu](http://github.com/GoekeLab/bambu) |
| 50 | + |
| 51 | + > Chen, Ying, et al. "Context-aware transcript quantification from long-read RNA-seq data with Bambu." Nature methods 20.8 (2023): 1187-1195. |
| 52 | +
|
| 53 | +- [IsoQuant](https://ablab.github.io/IsoQuant/) |
| 54 | + |
| 55 | + > Prjibelski, Andrey D., et al. "Accurate isoform discovery with IsoQuant using long reads." Nature Biotechnology 41.7 (2023): 915-918. |
| 56 | +
|
| 57 | +- [StringTie](https://github.com/skovaka/stringtie2) |
| 58 | + |
| 59 | + > Kovaka, Sam, et al. "Transcriptome assembly from long-read RNA-seq alignments with StringTie2." Genome biology 20.1 (2019): 278. |
| 60 | +
|
| 61 | +- [gffcompare](https://ccb.jhu.edu/software/stringtie/gff.shtml) |
| 62 | + |
| 63 | + > Pertea, Geo, and Mihaela Pertea. "GFF utilities: GffRead and GffCompare." F1000Research 9 (2020): ISCB-Comm. |
| 64 | +
|
| 65 | +- [oarfish](https://github.com/COMBINE-lab/oarfish) |
| 66 | + |
| 67 | + > Zare Jousheghani, Zahra, Noor Pratap Singh, and Rob Patro. "Oarfish: Enhanced probabilistic modeling leads to improved accuracy in long read transcriptome quantification." Bioinformatics 41.Supplement_1 (2025): i304-i313. |
20 | 68 |
|
21 | 69 | ## Software packaging/containerisation tools |
22 | 70 |
|
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