BOL: Related items

EasyBuild

Jit — Fri, 27 Jan 2017 16:00:43 -0600

EasyBuild is a software build and installation framework that allows you to manage (scientific) software on High Performance Computing (HPC) systems in an efficient way.
A full list of supported software packages is available here.

Address of the bookmark: https://hpcugent.github.io/easybuild/

SVfinder: Tool for detecting genomic rearrangement form DNA-seq data

Robert M Willioms — Thu, 14 Dec 2017 15:51:40 -0600

SVfinder provides genome-wide detection of structural variants from next generation paired-end sequencing reads.

Address of the bookmark: https://github.com/cauyrd/SVfinder

GMOL: An Interactive Tool for 3D Genome Structure Visualization

Jit — Wed, 21 Mar 2018 12:25:20 -0500

GMOL was developed based upon our multi-scale approach that allows a user to scale between six separate levels within the genome. With GMOL, a user can choose any unit at any scale and scale it up or down to visualize its structure and retrieve corresponding genome sequences.

Address of the bookmark: https://www.nature.com/articles/srep20802

G-NEST: The Gene NEighborhood Scoring Tool

Neel — Fri, 25 Sep 2020 20:09:18 -0500

The Gene NEighborhood Scoring Tool (G-NEST) combines genomic location, gene expression, and evolutionary sequence conservation data to score putative gene neighborhoods across all window sizes. Primary author of final code = William F. Martin. Example data files are in the separate repository.

Address of the bookmark: https://github.com/dglemay/G-NEST

Tools to access the quality of your assembled genome !

LEGE — Thu, 08 Aug 2024 23:31:18 -0500

FASTA VALIDATOR + SEQKIT RMDUP: FASTA validation
GENOMETOOLS GT GFF3VALIDATOR: GFF3 validation
ASSEMBLATHON STATS: Assembly statistics
GENOMETOOLS GT STAT: Annotation statistics
NCBI FCS ADAPTOR: Adaptor contamination pass/fail
NCBI FCS GX: Foreign organism contamination pass/fail
BUSCO: Gene-space completeness estimation
TIDK: Telomere repeat identification
LAI: Continuity of repetitive sequences
KRAKEN2: Taxonomy classification
HIC CONTACT MAP: Alignment and visualisation of HiC data
MUMMER → CIRCOS + DOTPLOT & MINIMAP2 → PLOTSR: Synteny analysis
MERQURY: K-mer completeness, consensus quality and phasing assessment

The Gene Detectives: How a New Computational Tool Is Helping Us Read the History Written in Our Genes

BioStar — Thu, 10 Sep 2026 21:23:42 -0500

Imagine opening an ancient family album with no names, dates, or captions. Some photographs are missing, others have been copied, and a few show people who look almost identical. Your challenge is to discover who is related to whom and reconstruct the family story. In evolutionary biology, scientists face a similar mystery when they study genes. Every genome contains clues about its past, but genes can be duplicated, lost, and changed over millions of years, making their history difficult to trace.

A recent study published in PLOS Computational Biology introduces REvolutionH-tl 2.0 (https://pypi.org/project/revolutionhtl/), a computational tool designed to help solve this mystery. The software analyzes protein sequences and identifies evolutionary relationships between genes. It can help researchers detect important events such as gene duplication, gene loss, and speciation, allowing them to reconstruct how genes evolved across different organisms.

What makes the tool especially interesting is its focus on both speed and interpretation. The researchers compared REvolutionH-tl 2.0 with several existing computational tools and reported that it achieved competitive accuracy while requiring less computational time in their tests. The tool also includes visualization features, helping researchers turn complicated genetic data into evolutionary stories that are easier to explore.

Genes are more than simple sequences of DNA; they are records of life’s long history. Each surviving gene carries traces of the changes that shaped it. By bringing together computational analysis and visualization, REvolutionH-tl 2.0 acts like a detective, helping scientists uncover these hidden stories. Ultimately, tools like this can improve our understanding of how genomes evolved and how genes acquired the roles they perform today.

More at https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1013017

Circleator

Jit — Sun, 25 Jun 2017 18:04:32 -0500

The Charm City Circleator--or Circleator for short--is a Perl-based visualization tool developed at the Institute for Genome Sciences in the University of Maryland's School of Medicine. Circleator produces circular plots of genome-associated data, like this one:

Common uses of the tool include:

Displaying the sequence and/or genes in a GenBank flat file.
Highlighting differences and/or similarities in gene content between related organisms.
Comparing SNPs and indels between closely-related strains or serovars.
Comparing gene expression values across multiple samples or timepoints.
Visualizing coverage plots of RNA-Seq read alignments.

Key Features

Circleator...

Builds on BioPerl and the input file formats that it supports, including:
- GenBank flat files, GFF, FASTA
Accepts a number of other commonly-used datatypes and file formats:
- BSR and TRF output, SAM/BAM files, VCF-encoded SNPs, tab-delimited files
Outputs publication-ready figures in the SVG (Scalable Vector Graphics) format.
Requires only a single configuration file whose layout mirrors that of the figure itself.
- Predefined configuration files and "track" types are supplied for common datasets.
- Advanced features allow limited analyses to be performed as a figure is drawn.
Includes an extensive set of regression tests.
Offers a prototype web-based GUI (under the "Ringmaster" project.)

https://github.com/jonathancrabtree/Circleator

Address of the bookmark: https://github.com/jonathancrabtree/Circleator

COPE: an accurate k-mer-based pair-end reads connection tool to facilitate genome assembly

Jit — Wed, 06 Dec 2017 02:08:14 -0600

An efficient tool called Connecting Overlapped Pair-End (COPE) reads, to connect overlapping pair-end reads using k-mer frequencies. We evaluated our tool on 30× simulated pair-end reads from Arabidopsis thaliana with 1% base error. COPE connected over 99% of reads with 98.8% accuracy, which is, respectively, 10 and 2% higher than the recently published tool FLASH. When COPE is applied to real reads for genome assembly, the resulting contigs are found to have fewer errors and give a 14-fold improvement in the N50 measurement when compared with the contigs produced using unconnected reads.

Address of the bookmark: ftp://ftp.genomics.org.cn/pub/cope

GPOPSIM: a simulation tool for whole-genome genetic data

Jit — Wed, 17 Jan 2018 03:47:46 -0600

GPOPSIM is a simulation tool for pedigree, phenotypes, and genomic data, with a variety of population and genome structures and trait genetic architectures. It provides flexible parameter settings for a wide discipline of users, especially can simulate multiple genetically correlated traits with desired genetic parameters and underlying genetic architectures.

Address of the bookmark: https://github.com/SCAU-AnimalGenetics/GPOPSIM

BFC: a standalone high-performance tool for correcting sequencing errors from Illumina sequencing data

Jit — Thu, 31 May 2018 09:35:23 -0500

BFC is a standalone high-performance tool for correcting sequencing errors from Illumina sequencing data. It is specifically designed for high-coverage whole-genome human data, though also performs well for small genomes. The BFC algorithm is a variant of the classical spectrum alignment algorithm introduced by Pevzner et al (2001). It uses an exhaustive search to find a k-mer path through a read that minimizes a heuristic objective function jointly considering penalties on correction, quality and k-mer support. This algorithm was first implemented in my fermi assembler and then refined a few times in fermi, fermi2 and now in BFC. In the k-mer counting phase, BFC uses a blocked bloom filter to filter out most singleton k-mers and keeps the rest in a hash table (Melsted and Pritchard, 2011). The use of bloom filter is how BFC is named, though other correctors such as Lighter and Bless actually rely more on bloom filter than BFC. https://github.com/lh3/bfc

Address of the bookmark: https://github.com/lh3/bfc