BOL: Related items

MinION_GC: An R script to do some QC on MinION data

Radha Agarkar — Sun, 03 Dec 2017 15:19:18 -0600

Other tools focus on getting data out of the fastq or fast5 files, which is slow and computationally intensive. The benefit of this approach is that it works on a single, small, .txt summary file. So it's a lot quicker than most other things out there: it takes about a minute to analyse a 4GB flowcell on my laptop.

https://github.com/roblanf/minion_qc

Address of the bookmark: https://github.com/roblanf/minion_qc

MIX: Combining multiple assemblies from NGS data

Rahul Nayak — Tue, 08 May 2018 04:58:05 -0500

Mix is a tool that combines two or more draft assemblies, without relying on a reference genome and has the goal to reduce contig fragmentation and thus speed-up genome finishing. The proposed algorithm builds an extension graph where vertices represent extremities of contigs and edges represent existing alignments between these extremities. These alignment edges are used for contig extension. The resulting output assembly corresponds to a path in the extension graph that maximizes the cumulative contig length.

The Mix algorithm, approach and results were published in BMC bioinformatics : http://www.biomedcentral.com/1471-2105/14/S15/S16.

Address of the bookmark: https://github.com/cbib/MIX

NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data

Jit — Mon, 06 Aug 2018 17:24:53 -0500

NextSV, a meta SV caller and a computational pipeline to perform SV calling from low coverage long-read sequencing data. NextSV integrates three aligners and three SV callers and generates two integrated call sets (sensitive/stringent) for different analysis purpose. The output of NextSV is in ANNOVAR-compatible bed format. Users can easily perform downstream annotation using ANNOVAR and disease gene discovery using Phenolyzer.

Address of the bookmark: https://github.com/Nextomics/NextSV

BamView: a free interactive display of read alignments in BAM data files

Neel — Fri, 09 Nov 2018 13:43:22 -0600

To run the application on UNIX from the downloaded jar file run the UNIX:

java -mx512m -jar BamView.jar

and extra command line options are given when '-h' is used:

java -jar BamView.jar -h

BAM files can be specified on the command line with the '-a' option:

java -mx512m -jar BamView.jar -a pathToFile/sorted.bam

If a BAM filename is not given on the command line BamView will prompt for a file to be entered. The BAM index file should have the same name as the BAM file but with a '.bai' suffix. Multiple BAM files can be loaded and overlaid in the viewer. To make this easier BamView will read in files that contain a list of filenames.

Address of the bookmark: http://bamview.sourceforge.net/

kallisto: a program for quantifying abundances of transcripts from bulk and single-cell RNA-Seq data

Jit — Mon, 07 Jan 2019 10:35:14 -0600

kallisto is a program for quantifying abundances of transcripts from bulk and single-cell RNA-Seq data, or more generally of target sequences using high-throughput sequencing reads. It is based on the novel idea of pseudoalignment for rapidly determining the compatibility of reads with targets, without the need for alignment. On benchmarks with standard RNA-Seq data, kallisto can quantify 30 million human reads in less than 3 minutes on a Mac desktop computer using only the read sequences and a transcriptome index that itself takes less than 10 minutes to build. Pseudoalignment of reads preserves the key information needed for quantification, and kallisto is therefore not only fast, but also as accurate as existing quantification tools. In fact, because the pseudoalignment procedure is robust to errors in the reads, in many benchmarks kallisto significantly outperforms existing tools. kallisto is described in detail in:

Nicolas L Bray, Harold Pimentel, Páll Melsted and Lior Pachter, Near-optimal probabilistic RNA-seq quantification, Nature Biotechnology 34, 525–527 (2016), doi:10.1038/nbt.3519

Address of the bookmark: https://pachterlab.github.io/kallisto/about

heatmaply: popular graphical method for visualizing high-dimensional data

Neel — Sat, 11 Jan 2020 07:34:14 -0600

This work is based on ggplot2 and plotly.js engine. It produces similar heatmaps as d3heatmap, with the advantage of speed (plotly.js is able to handle larger size matrix), and the ability to zoom from the dendrogram.

heatmaply also provides an interface based around the plotly R package. This interface can be used by choosing plot_method = "plotly" instead of the default plot_method = "ggplot". This interface can provide smaller objects and faster rendering to disk in many cases and provides otherwise almost identical features.

Documentation for this package is also available as a pkgdown site: http://talgalili.github.io/heatmaply/

Address of the bookmark: http://talgalili.github.io/heatmaply/articles/heatmaply.html

vt: a variant tool set that discovers short variants from Next Generation Sequencing data.

Jit — Tue, 28 Jan 2020 03:44:43 -0600

vt is a variant tool set that discovers short variants from Next Generation Sequencing data.

https://genome.sph.umich.edu/wiki/Vt

https://github.com/atks/vt

Address of the bookmark: https://genome.sph.umich.edu/wiki/Vt

proActiv: Estimation of Promoter Activity from RNA-Seq data

BioStar — Thu, 13 Aug 2020 10:21:44 -0500

proActiv is an R package that estimates promoter activity from RNA-Seq data. proActiv uses aligned reads and genome annotations as input, and provides absolute and relative promoter activity as output. The package can be used to identify active promoters and alternative promoters, the details of the method are described in Demircioglu et al.

Additional data on differential promoters in tissues and cancers from TCGA, ICGC, GTEx, and PCAWG can be downloaded here: https://jglab.org/data-and-software/

Address of the bookmark: https://github.com/GoekeLab/proActiv

3D Genome Browser: explore chromatin interaction data, such as Hi-C, ChIA-PET, Capture Hi-C, PLAC-Seq, and more

BioStar — Fri, 22 Jan 2021 20:19:32 -0600

Beside visualizing chromatin interaction data, you can also seamlessly browse other omics data such as ChIP-Seq or RNA-Seq for the same genomic region, and gain a complete view of both regulatory landscape and 3D genome structure for any given gene. You can also check the expression of any queried gene across hundreds of tissue/cell types measured by the ENCODE consortium. Finally, please check out the virtual 4C page, where we provide multiple methods to link distal cis-regulatory elements with their potential target genes, including virtual 4C, ChIA-PET and cross-cell-type correlation of proximal and distal DHSs.

Address of the bookmark: http://3dgenome.fsm.northwestern.edu/index.html

OrthoVenn3: an integrated platform for exploring and visualizing orthologous data across genomes

Abhi — Tue, 02 May 2023 00:48:28 -0500

OrthoVenn3 is a powerful tool for comparative genomics analysis, used as a web server for full genome comparisons, annotation, and evolutionary analysis of orthologous clusters across multiple species. It has already been used by thousands of users from over 60 countries.

Address of the bookmark: https://orthovenn3.bioinfotoolkits.net/