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

Yannick Wurm Lab

Thu, 07 Aug 2014 18:02:37 -0500

Evolutionary genomics of social insects. Extensive theoretical work has explained how and why complex societies evolve. However, only little is known about the genes and molecular mechanisms responsible for social phenotypes. We have been identifying genes and mechanisms involved in the evolution of insect societies using modern genomics tools (Illumina, RNAseq, RADseq...). For example we recently:

1. sequenced and analyzed the genome of the invasive red fire ant Solenopsis invicta (PNAS 2011)

2. discovered that a fundamental social trait in this species (how many queens are accepted in the colony) is determined by variants of a social chromosome (Nature 2013).

3. described the gene expression changes that occur in a virgin queen when she is given the opportunity of replacing her mother (Mol Ecol 2010).

Homepage: http://yannick.poulet.org/

BIGMAC : breaking inaccurate genomes and merging assembled contigs for long read metagenomic assembly

Jit — Mon, 22 May 2017 05:43:51 -0500

This tool is for users to upgrade their metagenomics assemblies using long reads. This includes fixing mis-assemblies and scaffolding/gap-filling. If you encounter any issues, please contact me at kklam@eecs.berkeley.edu. My name is Ka-Kit Lam.

https://github.com/kakitone/MetaFinisherSC

https://github.com/kakitone/BIGMAC

Address of the bookmark: https://github.com/kakitone/BIGMAC

Hapsembler: An Assembler for Highly Polymorphic Genomes

Jit — Tue, 22 May 2018 04:09:53 -0500

Hapsembler is a haplotype-specific genome assembly toolkit that is designed for genomes that are rich in SNPs and other types of polymorphism. Hapsembler can be used to assemble reads from a variety of platforms including Illumina and Roche/454. http://compbio.cs.toronto.edu/hapsembler/

Address of the bookmark: http://compbio.cs.toronto.edu/hapsembler/

598 Indian Genomes from 55 ethnic groups Sequenced

Jit — Fri, 13 Dec 2019 20:31:42 -0600

This study reports sequence from 1,267 individuals that includes 598 individuals representing 55 ethnic groups that span the major language groups across India.

Importantly, this study found many large population groups from India in which individuals were more related to each other by descent. These groups are similar to the Finnish population group where many disease gene discoveries were made. The Finnish-equivalent Indian groups are going to be a great resource for disease gene discovery and they will aid in target identification, drug development and disease management.

This study has identified many genetic variants that are specific to Indian population groups that were previously not known. Some of these are common variants in the Indian groups, but when first identified by previous studies from India involving smaller sample size, they were thought to be disease causing (for example in diabetes) as they were not represented in the Eurocentric variant database.

Several variants that pre-dispose individuals to higher cancer risk were identified in this study. Once this part of the work is expanded, the data from this can be used to screen individuals to understand the disease risk and provide appropriate monitoring and proactive treatment. Similarly, variants linked to increase in adverse effect in individuals for certain drugs were found. Understanding this will allow doctors to provide alternate safer drugs to such patients.

More at https://www.nature.com/articles/s41586-019-1793-z

https://www.nature.com/nature/volumes/576/issues/7785

karyoploteR: plot whole genomes with arbitrary data

Abhimanyu Singh — Fri, 02 Feb 2018 03:24:28 -0600

karyoploteR is an R package to create karyoplots, that is, representations of whole genomes with arbitrary data plotted on them. It is inspired by the R base graphics system and does not depend on other graphics packages. The aim of karyoploteR is to offer the user an easy way to plot data along the genome to get broad genome-wide view to facilitate the identification of genome wide relations and distributions.

Address of the bookmark: https://bernatgel.github.io/karyoploter_tutorial/

kSNP3.0: SNP detection and phylogenetic analysis of genomes without genome alignment or reference genome

Jit — Fri, 08 Dec 2017 16:48:40 -0600

Sept. 20, 2017 Version 3.1 released. Major upgrade. Version 3.1 fixes the problems with SNP annotation that arose when NCBI discontinued use of GI numbers. Please read carefully the Preface (page 3) and the File of annotated genomes section (pages 9-10) in the version 3.1 User Guide. Thanks to Tom Slezak for revsing the get_genbank_file3 script and to Tod Stuber (USDA) for testing version 3.1 even though he doesn't need the annotation feature. All users are encouraged to upgrade to version 3.1.

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

Tallymer: method to compute K-mer frequencies and its application to annotate large repetitive plant genomes

Jit — Thu, 15 Feb 2018 10:21:02 -0600

Tallymer is based on enhanced suffix arrays. This gives a much larger flexibility concerning the choice of the k-mer size. Tallymer can process large data sizes of several billion bases. We used it in a variety of applications to study the genomes of maize and other plant species. In particular, Tallymer was used to index a set whole genome shotgun sequences from maize (B73) (total size 10⁹ bp).
Tallymer was effective in a variety of applications to aid genome annotation in maize, despite limitations imposed by the relatively low coverage of sequence available.

A manual can be found here.

Address of the bookmark: https://www.zbh.uni-hamburg.de/forschung/arbeitsgruppe-genominformatik/software/tallymer.html

GenomeMapper: Simultaneous alignment of short reads against multiple genomes

Jit — Fri, 25 May 2018 09:29:44 -0500

GenomeMapper is a short read mapping tool designed for accurate read alignments. It quickly aligns millions of reads either with ungapped or gapped alignments. It can be used to align against multiple genomes simulanteously or against a single reference. If you are unsure which one is the appropriate GenomeMapper, you might want to use the latter https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768987/

Address of the bookmark: http://1001genomes.org/software/genomemapper.html

CSBFinder: Discovery of colinear syntenic blocks across thousands of prokaryotic genomes

Jit — Wed, 24 Oct 2018 22:12:27 -0500

CSBFinder is a standalone Desktop java application with a graphical user interface, that can also be executed via command line.

CSBFinder implements a novel methodology for the discovery, ranking, and taxonomic distribution analysis of colinear syntenic blocks (CSBs) - groups of genes that are consistently located close to each other, in the same order, across a wide range of taxa. CSBFinder incorporates an efficient algorithm that identifies CSBs in large genomic datasets. The discovered CSBs are ranked according to a probabilistic score and clustered to families according to their gene content similarity.

Address of the bookmark: https://github.com/dinasv/CSBFinder