BOL: Related items

GFinisher: a new strategy to refine and finish bacterial genome assemblies

Jit — Thu, 26 Jul 2018 09:31:55 -0500

GFinisher is an application tools for refinement and finalization of prokaryotic genomes assemblies using the bias of GC Skew to identify assembly errors and organizes the contigs/scaffolds with genomes references.

java -Xms2G -Xmx4G -jar GenomeFinisher.jar  \
    -i target_contigs.fasta  \
    -ds alternative_assemblies.fasta -ref reference.fasta  \
    -o outputDirectory

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

MITOS: improved de novo metazoan mitochondrial genome annotation

Jit — Fri, 26 Oct 2018 08:25:39 -0500

Allows automatic annotation of metazoan mitochondrial genomes. MITOS is a pipeline designed to compute a consistent de novo annotation of the mitogenomic sequences. The software allows for a systematic error screening, the standardisation of gene name and gene boundary designation, anticodon labelling of tRNAs, and provides the means for the assessment of the validity of a gene assignment.

Address of the bookmark: http://mitos.bioinf.uni-leipzig.de/index.py

SKESA: strategic k-mer extension for scrupulous assemblies

Jit — Wed, 14 Nov 2018 04:45:41 -0600

SKESA is a DeBruijn graph-based de-novo assembler designed for assembling reads of microbial genomes sequenced using Illumina. Comparison with SPAdes and MegaHit shows that SKESA produces assemblies that have high sequence quality and contiguity, handles low-level contamination in reads, is fast, and produces an identical assembly for the same input when assembled multiple times with the same or different compute resources.

Source code for SKESA is freely available at https://github.com/ncbi/SKESA/releases.

Research Paper @ Link

SKESA algorithm are as follows:

Address of the bookmark: https://github.com/ncbi/SKESA/releases

genoPlotR - plot gene and genome maps project!

Abhimanyu Singh — Wed, 12 Dec 2018 08:33:41 -0600

genoPlotR is a R package to produce reproducible, publication-grade graphics of gene and genome maps. It allows the user to read from usual format such as protein table files and blast results, as well as home-made tabular files.

Features

Linear representation of several segments of DNA
Comparisons represented by areas between the segments (like Artemis, for example)
Reads from common formats: Genbank, EMBL, blast, Mauve, and from user-generated tab files
Plot several subsegments of the same segment on the same line, separated by a //
Automatic or manual placement of the segments on the plot
Add annotations to all the lines
Create smart, automatic annotations for genomes, based on gene names
Add a user-generated tree
Add a global scale or a scale to each line
Use user-defined graphical functions to represent genes

Address of the bookmark: http://genoplotr.r-forge.r-project.org/

Hawkeye: an interactive visual analytics tool for genome assemblies

Abhimanyu Singh — Tue, 01 Jan 2019 11:56:17 -0600

Genome sequencing remains an inexact science, and genome sequences can contain significant errors if they are not carefully examined. Hawkeye is our new visual analytics tool for genome assemblies, designed to aid in identifying and correcting assembly errors. Users can analyze all levels of an assembly along with summary statistics and assembly metrics, and are guided by a ranking component towards likely mis-assemblies. Hawkeye is freely available and released as part of the open source AMOS project http://amos.sourceforge.net/hawkeye.

https://genomebiology.biomedcentral.com/articles/10.1186/gb-2007-8-3-r34

Address of the bookmark: http://amos.sourceforge.net/wiki/index.php?title=Hawkeye

List of tools frequently used while genome assembly

BioStar — Tue, 22 Jan 2019 09:39:02 -0600

List of tools frequently used while genome assembly:

I have used the following assemblers

Spades (v. 3.10.1)
CANU (v. 1.6)
Unicycler (v. v0.4.1)
Miniasm (v. 0.2-r137-dirty)

I have used the following mappers

minimap2 (v. 2.0rc1-r232)
minimap (v. 0.2-r124-dirty)
bwa (v. 0.7.12-r1039)

I have used the following polishing tools

Racon (v. not available)
Pilon (v. 1.18)
Nanopolish (v. 0.8.3)

I have used the following tools to assess genome assembly characteristics

ANI.pl (https://github.com/chjp/ANI)
CheckM (v. 1.0.7)
Prokka (v. 1.12)
QUAST (v. 2.3)
mummer (v. not available)

If you have any ideas or superior tools we have missed please let us know in the comments.

Apollo: First instantaneous, collaborative genomic annotation editor available on the Web

Jit — Fri, 31 May 2019 19:55:39 -0500

Apollo is a plug-in for the JBrowse Genome Viewer.
In addition to genes and pseudogenes, users can annotate ncRNAs (snRNA, snoRNA, tRNA, rRNA), miRNAs, repeat regions, and transposable elements; each annotation type has its own configuration of the ‘Information Editor’.
History tracking with undo/redo functions is available.
Users are able to directly set an annotation to a specific state, choosing from the ‘History’ display.
Adding and updating PubMed IDs will prompt users with a publication title to confirm their submission.
Gene Ontology (GO) terms are supported and GO ID auto-completion has been incorporated.
Users may access a ‘Recent Changes’ page.
Help page with Apollo specific content is available.

Address of the bookmark: http://genomearchitect.github.io/

5700 year-old human genome !

Jit — Thu, 19 Dec 2019 11:22:18 -0600

A Landmark in genomics, scientists have done something that hasn't been done ever.

Scientists have reconstructed the genome of an ancient human who lived nearly 5,700 years ago in Southern Denmark from the birch pitch- an ancient tar-like substance.

By sequencing the sample, researchers not only discovered the ancient human DNA but also microbial DNA reflecting the oral microbiome of the person who chewed the pitch, along with plant and animal DNA that could be the recent meal she might have consumed.

The DNA sample is comparable in quality to well-preserved teeth and skull bones. The DNA suggests that the chewer was a female, most likely with dark skin, dark brown hair and blue eyes.

https://www.nature.com/articles/s41467-019-13549-9

Artistic reconstruction. (Tom Björklund)

More at https://gizmodo.com/scientists-reconstruct-lola-after-finding-her-dna-in-1840481633

China’s BGI says it can sequence a genome for just $100

Neel — Sat, 29 Feb 2020 04:49:43 -0600

Using technology originally acquired in the US, the Chinese gene giant BGI Group says it will make genome sequencing cheaper than ever, breaking the $100 barrier for the first time.

The Shenzhen company says the low cost will be possible with an “extreme” DNA sequencing system it plans to offer that is capable of decoding the genomes of 100,000 people a year.

Ref: https://www.technologyreview.com/s/615289/china-bgi-100-dollar-genome/

HASLR: a hybrid assembler which uses both second and third generation sequencing reads

BioStar — Mon, 04 May 2020 02:04:03 -0500

HASLR, a hybrid assembler which uses both second and third generation sequencing reads to efficiently generate accurate genome assemblies. Our experiments show that HASLR is not only the fastest assembler but also the one with the lowest number of misassemblies on all the samples compared to other tested assemblers. Furthermore, the generated assemblies in terms of contiguity and accuracy are on par with the other tools on most of the samples. Availability. HASLR is an open source tool available at https://github.com/vpc-ccg/haslr.

Address of the bookmark: https://github.com/vpc-ccg/haslr