BOL: BioStar's bookmarks

HaploMerger2: rebuilding both haploid sub-assemblies from high-heterozygosity diploid genome assembly

BioStar — Thu, 27 Sep 2018 07:08:47 -0500

HM2 can process any diploid assemblies, but it is especially suitable for diploid assemblies with high heterozygosity (≥3%), which can be difficult for other tools. This pipeline also implements flexible and sensitive assembly error detection, a hierarchical scaffolding procedure and a reliable gap-closing method for haploid sub-assemblies.

Source code, executables and the testing dataset are freely available at https://github.com/mapleforest/HaploMerger2/releases/.

Address of the bookmark: https://github.com/mapleforest/HaploMerger2/releases/

PANDASEQ is a program to align Illumina reads, optionally with PCR primers embedded in the sequence, and reconstruct an overlapping sequence.

BioStar — Fri, 21 Sep 2018 10:19:52 -0500

Development packages for zlib and libbz2 are needed, as well as a standard compiler environment. On Ubuntu, this can be installed via:

sudo apt-get install build-essential libtool automake zlib1g-dev libbz2-dev pkg-config

On MacOS, the Apple Developer tools and Fink (or MacPorts or Brew) must be installed, then:

sudo fink install bzip2-dev pkgconfig

Address of the bookmark: https://github.com/neufeld/pandaseq

STRUM: structure-based prediction of protein stability changes upon single-point mutation

BioStar — Mon, 10 Sep 2018 13:21:49 -0500

STRUM is a method for predicting the fold stability change (ΔΔG) of protein molecules upon single-point nsSNP mutations. STRUM adopts a gradient boosting regression approch to train the Gibbs free-energy changes on a variety of features at different levels of sequence and structure properties. The unique characteristics of STRUM is the combination of sequence profiles with low-resolution structure models from protein structure prediction, which helps enhance the robustness and accuracy of the method and make it applicable to various protein seqences, including those without experimental structures

Address of the bookmark: https://zhanglab.ccmb.med.umich.edu/STRUM/

P_RNA_scaffolder: a fast and accurate genome scaffolder using paired-end RNA-sequencing reads

BioStar — Fri, 07 Sep 2018 05:19:06 -0500

P_RNA_scaffolder is a novel scaffolding tool using Pair-end RNA-seq to scaffold genome fragments. The method is suitable for most genomes. The program could utilize Illumina Paired-end RNA-sequencing reads from target speciesies. Our method provides another practical alternative to existing mate-pair_based approaches or other Protein-based approaches (for instance, PEP_scaffolder ) for scaffolding genome sequences. The most important feature of this method is to improve the completeness of gene regions and long-coding gene regions (for instance, circRNA).

Address of the bookmark: http://www.fishbrowser.org/software/P_RNA_scaffolder/#

DEPARTMENT OF GENETICS, GENOMICS AND BIOINFORMATICS, National Biotechnology Development Agency, Nigeria

BioStar — Wed, 05 Sep 2018 10:48:25 -0500

The Genetics, Genomics & Bioinformatics Department (GBBD) at NABDA is unique, encompassing all facets of modern genetics and bioinformatics research. Trans-disciplinary research being conducted in our laboratories would lead to cures for human diseases; improvements to crop and livestock quality and yield; creation of new technologies with applications to medicine; agriculture; environment; and industry.

Our capacity building activities covers both general and specialized topics in translational genetics, and is designed to better acquaint scientists and clinicians with the tools and technologies of genetics and genomics.

OUR RESEARCH ACTIVITIES INCLUDE:

Biomedical Genetics: investigating genetic and environmental factors contributing to phenotypes with relevance to human health and disease.
Computation and Bioinformatics: develop new approaches for the management, analysis, and modelling of large, complex data sets.
Population and Quantitative Genetics: study of how genetic processes evolve to generate genetic variation in populations of organisms, and the effects on the patterning of variation within and between populations and specie, and
Genetic Engineering and Biotechnology: focuses on the research and innovation for industrial enzymes, biologics and biosimilars production.

https://www.h3abionet.org/nabda

Address of the bookmark: http://www.nabda.gov.ng/departments/genetics-genomics-and-bioinformatics

AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing

BioStar — Fri, 22 Dec 2017 00:31:06 -0600

AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to ∼98% reduction of false variants when combined to conventional public pipelines and ∼48% to the in-house commercial solution, with a minimal loss of sensitivity

The program with a detailed manual is available at https://sourceforge.net/projects/airvf/

Address of the bookmark: https://sourceforge.net/projects/airvf/