BOL: Related items

VirMet

Jit — Mon, 10 Oct 2016 08:27:19 -0500

Watch out: only a few files are counted in coverage statistics.

Full documentation on Read the Docs.

A set of tools for viral metagenomics.

virmet is called with a command subcommand syntax: virmet fetch --viral n, for example, downloads the bacterial database. Other available subcommands so far are

fetch download genomes
update update viral/bacterial database
index index genomes
wolfpack analyze a Miseq run
covplot plot coverage for a specific organism

A short help is obtained with virmet subcommand -h.

More at https://github.com/ozagordi/VirMet

Address of the bookmark: https://github.com/ozagordi/VirMet

GeneBreak: a tool to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach

Jit — Sat, 01 Oct 2016 15:15:29 -0500

Development of cancer is driven by somatic alterations, including numerical and structural chromosomal aberrations. Currently, several computational methods are available and are widely applied to detect numerical copy number aberrations (CNAs) of chromosomal segments in tumor genomes. However, there is lack of computational methods that systematically detect structural chromosomal aberrations by virtue of the genomic location of CNA-associated chromosomal breaks and identify genes that appear non-randomly affected by chromosomal breakpoints across (large) series of tumor samples. ‘GeneBreak’ is developed to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach, which can be applied to DNA copy number data obtained by array-Comparative Genomic Hybridization (CGH) or by (low-pass) whole genome sequencing (WGS). First, ‘GeneBreak’ collects the genomic locations of chromosomal CNA-associated breaks that were previously pinpointed by the segmentation algorithm that was applied to obtain CNA profiles. Next, a tailored annotation approach for breakpoint-to-gene mapping is implemented. Finally, dedicated cohort-based statistics is incorporated with correction for covariates that influence the probability to be a breakpoint gene. In addition, multiple testing correction is integrated to reveal recurrent breakpoint events. This easy-to-use algorithm, ‘GeneBreak’, is implemented in R (www.cran.r-project.org) and is available from Bioconductor (www.bioconductor.org/packages/release/bioc/html/GeneBreak.html).

Address of the bookmark: http://www.bioconductor.org/packages/release/bioc/html/GeneBreak.html

GenomeScope: open-source web tool to rapidly estimate the overall characteristics of a genome, including genome size, heterozygosity rate, and repeat content from unprocessed short reads

Jit — Fri, 21 Oct 2016 05:46:43 -0500

Summary: GenomeScope is an open-source web tool to rapidly estimate the overall characteristics of a genome, including genome size, heterozygosity rate, and repeat content from unprocessed short reads. These features are essential for studying genome evolution, and help to choose parameters for downstream analysis. We demonstrate its accuracy on 324 simulated and 16 real datasets with a wide range in genome sizes, heterozygosity levels, and error rates. Availability and Implementation: http://qb.cshl.edu/genomescope/, https://github.com/schatzlab/genomescope.git

Address of the bookmark: http://qb.cshl.edu/genomescope/

LINKS

Jit — Fri, 04 Nov 2016 06:19:01 -0500

LINKS is a genomics application for scaffolding genome assemblies with long reads, such as those produced by Oxford Nanopore Technologies Ltd. It can be used to scaffold high-quality draft genome assemblies with any long sequences (eg. ONT reads, PacBio reads, another draft genomes, etc)

Paper at https://gigascience.biomedcentral.com/articles/10.1186/s13742-015-0076-3

Address of the bookmark: https://github.com/warrenlr/LINKS/

ScaffMatch

Jit — Tue, 13 Dec 2016 10:23:56 -0600

caffMatch is a novel scaffolding tool based on Maximum-Weight Matching able to produce high-quality scaffolds from NGS data (reads and contigs). The tool is written in Python 2.7. It also includes a bash script wrapper that calls aligner in case one needs to first map reads to contigs (instead of providing .sam files).

The arguments accepted by ScaffMatch are:

-w) Working directory -- this is the directory where ScaffMatch files are stored. These are .sam files produced after mapping reads to contigs and the resulting scaffolds file `scaffolds.fa` fasta file;

-c) Contig fasta file;

-m) Command line argument with no options. It is used when .sam files are used instead of reads .fastq files. Do not use this option if you provide reads files;

-1) (Comma separated list of) either .fastq or .sam file(s) corresponding to the first read of the read pair;

-2) (Comma separated list of) either .fastq or .sam file(s) corresponding to the second read of the read pair;

-i) (Comma separated list of) insert size(s) of the library(-ies);

-s) (Comma separated list of) library(-ies) standard deviation(s) of insert size(s);

-t) Bundle threshold. Pairs of contigs supported by number of read pairs less than the value of this argument are discarded. Optional argument, by default it is equal to 5;

-g) Matching heuristics: use `max_weight` for Maximum Weight Matching heuristics with the Insertion step, use `backbone` for Maximum Weight Matching heuristics without the Insertion step, use `greedy` for Greedy Matching heuristics;

-l) Log file - where to store the logs. Optional argument. By default, stdout is used.

Address of the bookmark: http://alan.cs.gsu.edu/NGS/?q=content/scaffmatch

GARM:Genome Assembly, Reconciliation and Merging

Jit — Mon, 19 Dec 2016 06:03:02 -0600

The pipeline is based mainly implemented using Perl scripts and modules and third-party open source software like the AMOS (Myers et al., 2000) and MUMmer (Kurtz et al., 2004) packages. The pipeline was tested on Debian, Ubuntu, Fedora and BioLinux distributions. The method merges contigs or scaffolds from different assemblers using the same or different sequencing technologies. When scaffolds are provided, a process of finding probable compressions or extensions (CE) problems in the assemblies can be per-formed; contigs are joined back into scaffolds after gap recalculation

Address of the bookmark: http://garm-meta-assem.sourceforge.net/

quickmerge: A simple and fast metassembler and assembly gap filler designed for long molecule based assemblies.

Jit — Mon, 19 Dec 2016 10:23:36 -0600

quickmerge uses a simple concept to improve contiguity of genome assemblies based on long molecule sequences, often with dramatic outcomes. The program uses information from assemblies made with illumina short reads and PacBio long reads to improve contiguities of an assembly generated with PacBio long reads alone. This is counterintuitive because illumina short reads are not typically considered to cover genomic regions which PacBio long reads cannot. Although we have not evaluated this program for assemblies generated with Oxford nanopore sequences, the program should work with ONP-assemblies too.

Address of the bookmark: https://github.com/mahulchak/quickmerge

NCBI Prokaryotic Genome Annotation Pipeline

Jit — Tue, 16 May 2017 08:56:03 -0500

NCBI Prokaryotic Genome Annotation Pipeline is designed to annotate bacterial and archaeal genomes (chromosomes and plasmids).

Genome annotation is a multi-level process that includes prediction of protein-coding genes, as well as other functional genome units such as structural RNAs, tRNAs, small RNAs, pseudogenes, control regions, direct and inverted repeats, insertion sequences, transposons and other mobile elements.

NCBI has developed an automatic prokaryotic genome annotation pipeline that combines ab initio gene prediction algorithms with homology based methods. The first version of NCBI Prokaryotic Genome Automatic Annotation Pipeline (PGAAP; see Pubmed Article) developed in 2005 has been replaced with an upgraded version that is capable of processing a larger data volume. You can find a more detailed description of the new version of the pipeline in NCBI Handbook chapter. NCBI's annotation pipeline depends on several internal databases and is not currently available for download or use outside of the NCBI environment.

https://www.ncbi.nlm.nih.gov/genome/annotation_prok/

Address of the bookmark: https://www.ncbi.nlm.nih.gov/genome/annotation_prok/

MAKER

Jitendra Narayan — Sun, 07 Feb 2016 15:59:24 -0600

MAKER is a portable and easily configurable genome annotation pipeline.Its purpose is to allow smaller eukaryotic and prokaryotic genome projects to independently annotate their genomes and to create genome databases. MAKER identifies repeats, aligns ESTs and proteins to a genome, produces ab-initio gene predictions and automatically synthesizes these data into gene annotations having evidence-based quality values.

More at http://www.yandell-lab.org/software/maker.html

Address of the bookmark: http://www.yandell-lab.org/software/maker.html

RCircos: an R package for Circos 2D track plots

Jit — Fri, 20 May 2016 11:01:13 -0500

RCircos package provides a simple and flexible way to make Circos 2D track plots with R and could be easily integrated into other R data processing and graphic manipulation pipelines for presenting large-scale multi-sample genomic research data. It can also serve as a base tool to generate complex Circos images.

More at https://bitbucket.org/henryhzhang/rcircos/src

Address of the bookmark: https://bitbucket.org/henryhzhang/rcircos/src