BOL: Related items

Snakemake workflow: dna-seq-gatk-variant-calling

Jit — Thu, 25 Jul 2019 12:55:07 -0500

This Snakemake pipeline implements the GATK best-practices workflow for calling small genomic variants.

Address of the bookmark: https://github.com/snakemake-workflows/dna-seq-gatk-variant-calling

Basic Structure of Snakemake Pipeline Run !

Abhi — Thu, 14 Oct 2021 07:01:38 -0500

/user/snakemake-demo$ ls

config.json data envs scripts slurm-240702.out Snakefile

data = mock data for the snakefile to use
Snakefile = name of the snakemake “formula” file
- Note: The default file that snakemake looks for in the current working directory is the Snakefile. If you would like to override that you can specify it following the -s
  - snakemake -s snakefile.py
envs = directory for storing the conda environments that the workflow will use.
scripts = directory for storing python scripts called by the snakemake formula.
config.json = json format file with extra parameters for our snakemake file to use.
cluster.json = json format file with specification for running on the HPC
samples.txt = file we will use later relating to the config.json file.

Run the snakemake file as a dry run (the example workflow shown above).

This will build a DAG of the jobs to be run without actually executing them.
snakemake --dry-run

User can execute rules of interest.

snakemake --dry-run all VS. snakemake --dry-run call VS. snakemake --dry-run bwa

Run the snakemake file in order to produce an image of the DAG of jobs to be run.

snakemake --dag | dot -Tsvg > dag.svg OR snakemake --dag | dot -Tsvg > dag.svg

Run the snakemake (this time not as a dry run)

snakemake --use-conda

Snakemake Tutorials !

Rahul Nayak — Mon, 09 May 2022 05:20:41 -0500

A lesson introducing the Snakemake workflow system for bioinformatics analysis.

Prerequisites

This is an intermediate lesson and assumes learners have already done some bioinformatics:

Familiarity with the BASH command shell, including concepts like pipes, variables and loops.

Knowledge of bioinformatics fundamentals like the FASTQ file format and transcriptome sequencing, in order to understand the example workflow.

No previous knowledge of Snakemake or workflow systems is required.

https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/index.html

Address of the bookmark: https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/aio/index.html

dcGOR

Martin Jones — Sat, 08 Nov 2014 14:54:28 -0600

An R package for analysing ontologies and protein domain annotations has been published in PLoS Computational Biology (http://dx.doi.org/10.1371/journal.pcbi.1003929). The package is distributed as part of CRAN (http://cran.r-project.org/package=dcGOR), and also at GitHub for version control.

The dedicated website is available in http://supfam.org/dcGOR, from which several demos are also provided:

1. Analysing SCOP domains: http://supfam.org/dcGOR/demo-Fang.html

2. Analysing Pfam domains: http://supfam.org/dcGOR/demo-Basu.html

3. Analysing InterPro domains: http://supfam.org/dcGOR/demo-Customisation.html

RCircos: an R package for Circos 2D track plots

Jit — Fri, 20 May 2016 11:01:13 -0500

RCircos package provides a simple and flexible way to make Circos 2D track plots with R and could be easily integrated into other R data processing and graphic manipulation pipelines for presenting large-scale multi-sample genomic research data. It can also serve as a base tool to generate complex Circos images.

More at https://bitbucket.org/henryhzhang/rcircos/src

Address of the bookmark: https://bitbucket.org/henryhzhang/rcircos/src

UpSetR: An R Package for the Visualization of Intersecting Sets and their Properties

BioStar — Mon, 28 Jan 2019 18:38:44 -0600

UpSetR generates static UpSet plots. The UpSet technique visualizes set intersections in a matrix layout and introduces aggregates based on groupings and queries. The matrix layout enables the effective representation of associated data, such as the number of elements in the aggregates and intersections, as well as additional summary statistics derived from subset or element attributes.

For further details about the original technique see the UpSet website. You can also check out the UpSetR shiny app. Here is the source code for the shiny wrapper.

A Python package called py-upset to create UpSet plots has been created by GitHub user ImSoErgodic.

Address of the bookmark: https://github.com/hms-dbmi/UpSetR/

R Package for PCA Analysis

LEGE — Sun, 24 Mar 2024 20:06:24 -0500

An R package for performing principal component analysis (PCA) of genomics data. The package performs PCA, generates the publication-ready plots, and identifies population-specific outlier individuals. The package can be accessed on GitHub: https://github.com/Devashish13/PopulationStructure

Address of the bookmark: https://rpubs.com/Devashish13/PCAGenomics

scikit-bio™ is an open-source, BSD-licensed, python package providing data structures, algorithms, and educational resources for bioinformatics.

Jit — Fri, 02 Mar 2018 04:29:47 -0600

scikit-bio is currently in beta. We are very actively developing it, and backward-incompatible interface changes can and will arise. To avoid these types of changes being a surprise to our users, our public APIs are decorated to make it clear to users when an API can be relied upon (stable) and when it may be subject to change (experimental). See the API stability docs for more details, including what we mean by stable and experimental in this context.

Address of the bookmark: http://scikit-bio.org/

regioneR: an R package for the management and comparison of genomic regions

Jit — Tue, 11 Dec 2018 08:43:51 -0600

Regioner is an R package for the management and comparison of genomic regions. It offers a set of function for basic manipulation of region sets extending the functionality of GenomicRanges and a powerful and customizable permutation test framework. With it, it's possible to study the association of a set of regions with other sets of regions, functions defined over the genome or essentially any user defined function.

http://gattaca.imppc.org/regioner/

Address of the bookmark: http://gattaca.imppc.org/regioner/

chromoMap-An R package for Interactive Visualization and Annotation of Chromosomes

Neel — Fri, 12 Apr 2019 05:30:41 -0500

Provides interactive, configurable and elegant graphics visualization of the chromosomes or chromosome regions of any living organism allowing users to map chromosome elements (like genes, SNPs etc.) on the chromosome plot. It introduces a special plot viz. the "chromosome heatmap" that, in addition to mapping elements, can visualize the data associated with chromosome elements (like gene expression) in the form of heat colors which can be highly advantageous in the scientific interpretations and research work. The package provide multiple features like visualizing multiple sets, chromosome heat-maps, group annotations, adding hyperlinks, and labelling. The plots can be saved as HTML documents that can be customized and shared easily. In addition, you can include them in R Markdown or in R 'Shiny' applications.

Address of the bookmark: https://cran.r-project.org/web/packages/chromoMap/vignettes/chromoMap.html