BOL: Related items

ENCODE3: A collection of research articles and related content describing the Encyclopedia of DNA Elements, its datasets and tools.

Shruti Paniwala — Sat, 08 Aug 2020 08:25:21 -0500

How cells, tissues and organisms interpret the information encoded in the genome has vital implications for our understanding of development, health and disease. Launched in 2003, the ENCyclopedia Of DNA Elements (ENCODE) project has the aim of mapping the functional elements in the human genome (later expanded to include model organisms).

During the first phase of ENCODE, published in 2007, microarray-based technologies were used to detect regions associated with transcription factors, certain histone modifications and open chromatin within a pre-specified 1% of the human genome.

ENCODE’s second phase saw a switch to sequencing-based technologies, the addition of new assay types and the analysis of functional elements genome-wide, described in a collection of research articles in 2012.

The Encyclopedia paper of ENCODE 3, published in Nature, gives an overview of the various assays that were performed in human and mouse cell lines and tissues and describes a Registry of human and mouse candidate cis-regulatory elements (cCREs).

More at https://www.nature.com/immersive/d42859-020-00027-2/index.html

HELIANO: A fast and accurate tool for detection of Helitron-like elements

LEGE — Tue, 13 Aug 2024 07:16:34 -0500

Helitron-like elements (HLE1 and HLE2) are DNA transposons. They have been found in diverse species and seem to play significant roles in the evolution of host genomes. Although known for over twenty years, Helitron sequences are still challenging to identify. Here, we propose HELIANO (Helitron-like elements annotator) as an efficient solution for detecting Helitron-like elements.

https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkae679/7730539?login=true

Address of the bookmark: https://github.com/Zhenlisme/heliano/

GKNO

Neel — Fri, 20 May 2016 18:56:37 -0500

gkno opens the world of complex bioinformatic analysis to people of all level of computational expertise. This site contains documentation, tutorials and information on all the tools that comprise gkno.

http://gkno.me/how-to/install.html

http://gkno.me/software.html

Address of the bookmark: http://gkno.me/

TULIP - The Uncorrected Long read Integration Pipeline

Jit — Tue, 15 May 2018 09:06:37 -0500

TULIP currently consists of two Perl scripts, tulipseed.perl and tulipbulb.perl. These are very much intended as prototypes, and additional components and/or implementations are likely to follow. Tulipseed takes as input alignments files of long reads to sparse short seeds, and outputs a graph and scaffold structures.

Address of the bookmark: https://github.com/Generade-nl/TULIP

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

YAMP: Yet Another Metagenomic Pipeline

BioStar — Sat, 06 Jul 2024 04:26:00 -0500

YAMP is constructed on Nextflow, a framework based on the dataflow programming model, which allows writing workflows that are highly parallel, easily portable (including on distributed systems), and very flexible and customisable, characteristics which have been inherited by YAMP. New modules can be added easily and the existing ones can be customised -- even though we have already provided default parameters deriving from our own experience.

Address of the bookmark: https://github.com/alesssia/YAMP

Taxoblast : Taxoblast is a pipeline to identify contamination in genomic sequence

Jit — Thu, 23 Nov 2017 08:37:15 -0600

Modern genome sequencing strategies are highly sensitive to contamination making the detection of foreign DNA sequences an important part of analysis pipelines. Here we use Taxoblast, a simple pipeline with a graphical user interface, for the post-assembly detection of contaminating sequences in the published genome of the kelp Saccharina japonica. Analyses were based on multiple blastn searches with short sequence fragments. They revealed a number of probable bacterial contaminations as well as hybrid scaffolds that contain both bacterial and algal sequences. This or similar types of analysis, in combination with manual curation, may thus constitute a useful complement to standard bioinformatics analyses prior to submission of genomic data to public repositories. Our analysis pipeline is open-source and freely available at http://sdittami.altervista.org/taxoblast and via SourceForge (https://sourceforge.net/projects/taxoblast).

Address of the bookmark: https://sourceforge.net/projects/taxoblast/files/

MetaPlotR: a Perl/R pipeline for plotting metagenes of nucleotide modifications and other transcriptomic sites

Neel — Mon, 05 Nov 2018 08:12:45 -0600

An increasing number of studies are mapping protein binding and nucleotide modifications sites throughout the transcriptome. Often, these sites cluster in certain regions of the transcript, giving clues to their function. Hence, it is informative to summarize where in the transcript these sites occur. A metagene is a simple and effective tool for visualizing the distribution of sites along a simplified transcript model. In this work, we introduce MetaPlotR, a Perl/R pipeline for creating metagene plots.

Address of the bookmark: https://github.com/olarerin/metaPlotR

HaploTypo: a variant-calling pipeline for phased genomes

Jit — Thu, 19 Dec 2019 07:33:40 -0600

An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available. However, most genetic variant calling tools do not explicitly account for haplotype structure. Here, we present HaploTypo, a pipeline tailored to resolve haplotypes in genetic variation analyses. HaploTypo infers the haplotype correspondence for each heterozygous variant called on a phased reference genome.

Availability and Implementation

HaploTypo is implemented in Python 2.7 and Python 3.5, and is freely available at https://github.com/gabaldonlab/haplotypo, and as a Docker image.

Address of the bookmark: https://github.com/gabaldonlab/haplotypo

gapFinisher: A reliable gap filling pipeline for SSPACE-LongRead scaffolder output

Rahul Nayak — Thu, 14 May 2020 15:13:30 -0500

gapFinisher to process SSPACE-LongRead output to fill gaps after the scaffolding. gapFinisher is based on the controlled use of a previously published gap filling tool FGAP and works on all standard Linux/UNIX command lines.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733440/

Address of the bookmark: https://github.com/kammoji/gapFinisher