BOL: Related items

LUMPY

Shruti Paniwala — Thu, 25 Aug 2016 08:05:02 -0500

A probabilistic framework for structural variant discovery.

Ryan M Layer, Colby Chiang, Aaron R Quinlan, and Ira M Hall. 2014. "LUMPY: a Probabilistic Framework for Structural Variant Discovery." Genome Biology 15 (6): R84. doi:10.1186/gb-2014-15-6-r84.

More at https://github.com/arq5x/lumpy-sv

Address of the bookmark: https://github.com/arq5x/lumpy-sv

Ka, Ks and Ka/Ks calculations

Poonam Mahapatra — Mon, 29 Aug 2016 11:44:11 -0500

gKaKs is a codon-based genome-level Ka/Ks computation pipeline developed and based on programs from four widely used packages: BLAT, BLASTALL (including bl2seq, formatdb and fastacmd), PAML (including codeml and yn00) and KaKs_Calculator (including 10 substitution rate estimation methods). gKaKs can automatically detect and eliminate frameshift mutations and premature stop codons to compute the substitution rates (Ka, Ks and Ka/Ks) between a well-annotated genome and a non-annotated genome or even a poorly assembled scaffold dataset. It is especially useful for newly sequenced genomes that have not been well annotated.

Look for KaKs calculation:

https://github.com/fumba/kaks-calculator

http://longlab.uchicago.edu/?q=gKaKs

http://www.ncbi.nlm.nih.gov/pubmed/23314322

Address of the bookmark: http://longlab.uchicago.edu/?q=gKaKs

Redundans

Jit — Thu, 01 Sep 2016 08:28:11 -0500

Redundans pipeline assists an assembly of heterozygous genomes.
Program takes as input assembled contigs, paired-end and/or mate pairs sequencing libraries and returns scaffolded homozygous genome assembly, that should be less fragmented and with total size smaller than the input contigs. In addition, Redundans will automatically close the gaps resulting from genome assembly or scaffolding more details.

The pipeline consists of three steps/modules:

redundancy reduction: detection and selectively removal of redundant contigs from an initial de novo assembly
scaffolding: joining of genome fragments using paired-end and/or mate-pairs reads
gap closing

Redundans is:

fast & lightweight, multi-core support and memory-optimised, so it can be run even on the laptop for small-to-medium size genomes
flexible toward many sequencing technologies (Illumina, 454 or Sanger) and library types (paired-end, mate pairs, fosmids)
modular: every step can be ommited or replaced by another tools

Address of the bookmark: https://github.com/Gabaldonlab/redundans

Structural variants PPT

Jit — Wed, 07 Sep 2016 03:16:09 -0500

1000 Genomes data tutorial at ASHG

Structural variants presentation by

Jan Korbel

European Molecular Biology Laboratory (EMBL) Heidelberg Genome Biology Research Unit

Reference:

https://www.genome.gov/pages/research/der/1000genomesprojecttutorials/structuralvariants-jankorbel.pdf

Nemo – A stochastic, individual-base, genetically explicit simulation platform

Jit — Sat, 01 Oct 2016 14:45:02 -0500

A recombination map has been added for all multi-locus traits. The map positions (chromosomal) for neutral markers (e.g. SNPs) and loci under selection (QTLs, deleterious mutations, DMIs) can now be specified explicitly, or set at random. The map can hold an unlimited number of loci of different types jointly, at any recombination scale (cM or lower). The effects of linkage can thus be finely explored.
A new trait coding for (Bateson-)Dobzhansky-Muller incompatibility loci. Multiple haploid or diploid pairs of incompatible loci can be spread throughout the genome and affect individual fitness.
Multi-type selection: Individual fitness can be jointly determined by different types of loci under selectinon, such as QTLs coding for quantitative traits under spatially variable selection, universally deleterious mutations, and Dobzhansky-Muller incompatibility loci.
An unlimited number of quantitative traits under different forms of selection can be modelled, based on universally pleiotropic loci with several bi- or multi-allelic models.
Spatial and temporal variation of selection on quantitative traits is possible, modelling shifts of environmental conditions over time.
The dispersal matrix describing the movement of individuals among sub-populations can be replaced by a connectivity matrix and a reduced dispersal matrix describing migration only among the connected sub-populations. This offers a substantial gain in computing time and system memory when simulating very large grids.
Input parameters' arguments may be specified in separate files. This is particularly convenient when specifying large matrices.
Many adjustments have been made for refined control of the input of parameters and data output. See updates in the manual.

Address of the bookmark: http://nemo2.sourceforge.net/index.html

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

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/

RECORD

Bulbul — Fri, 25 Nov 2016 08:23:36 -0600

Background. Next-generation sequencing technologies are now producing multiple times the genome size in total reads from a single experiment. This is enough information to reconstruct at least some of the differences between the individual genome studied in the experiment and the reference genome of the species. However, in most typical protocols, this information is disregarded and the reference genome is used. Results. We provide a new approach that allows researchers to reconstruct genomes very closely related to the reference genome (e.g., mutants of the same species) directly from the reads used in the experiment. Our approach applies de novo assembly software to experimental reads and so-called pseudoreads and uses the resulting contigs to generate a modified reference sequence. In this way, it can very quickly, and at no additional sequencing cost, generate new, modified reference sequence that is closer to the actual sequenced genome and has a full coverage. In this paper, we describe our approach and test its implementation called RECORD. We evaluate RECORD on both simulated and real data. We made our software publicly available on sourceforge. Conclusion. Our tests show that on closely related sequences RECORD outperforms more general assisted-assembly software.

More at https://sourceforge.net/projects/record-genome-assembler/files/

Address of the bookmark: https://www.ncbi.nlm.nih.gov/pubmed/26558255

e-RGA: enhanced Reference Guided Assembly of Complex Genomes

Jit — Mon, 19 Dec 2016 05:56:14 -0600

Next Generation Sequencing has totally changed genomics: we are able to produce huge amounts of data at an incredibly low cost compared to Sanger sequencing. Despite this, some old problems have become even more difficult, de novo assembly being on top of this list. Despite efforts to design tools able to assemble, de novo, an organism sequenced with short reads, the results are still far from those achievable with long reads. In this paper, we propose a novel method that aims to improve de novo assembly in the presence of a closely related reference. The idea is to combine de novo and reference-guided assembly in order to obtain enhanced results.

Address of the bookmark: http://journal.embnet.org/index.php/embnetjournal/article/view/208

EAGER

Jit — Sat, 10 Dec 2016 18:07:23 -0600

The automated reconstruction of genome sequences in ancient genome analysis is a multifaceted process.

EAGER encompasses both state-of-the-art tools for each step as well as new complementary tools tailored for ancient DNA data within a single integrated solution in an easily accessible format.

https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0918-z

Address of the bookmark: https://github.com/apeltzer/EAGER-GUI