BOL: Related items

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

BBMap help

Shruti Paniwala — Mon, 10 Oct 2016 06:29:03 -0500

BBMAP • a solution for everything

That content has been reformatted and it is being expanded to include more information.

There are common options for most BBMap suite programs and depending on the file extension the input/output format is automatically chosen/set.

Using BBMap

Mapping Nanopore reads

BBMap.sh has a length cap of 6kbp. Reads longer than this will be broken into 6kbp pieces and mapped independently.

More at https://www.biostarhandbook.com/tools/bbmap/bbmap-help.html

Address of the bookmark: https://www.biostarhandbook.com/tools/bbmap/bbmap-help.html

Beagle

Jit — Thu, 27 Oct 2016 11:19:00 -0500

Beagle is a software package that performs genotype calling, genotype phasing, imputation of ungenotyped markers, and identity-by-descent segment detection.

Beagle version 4.1 has a more accurate genotype phasing algorithm and a very fast and accurate genotype imputation algorithm. Version 4.1 also has several changes to the command line arguments which are described in the release notes. The "ped" argument has no effect in version 4.1. If your data contains nuclear families and you want to model the parent-offspring relationships when phasing genotypes, please use version 4.0.

If you use Beagle 4.1 in a published analysis, please report the program version and cite the appropriate article.

The citation for Beagle's phasing algorithm is:

S R Browning and B L Browning (2007) Rapid and accurate haplotype phasing and missing data inference for whole genome association studies by use of localized haplotype clustering. Am J Hum Genet 81:1084-1097.doi:10.1086/521987

The citation for Beagle's genotype imputation algorithm is:

B L Browning and S R Browning (2016). Genotype imputation with millions of reference samples. Am J Hum Genet 98:116-126.doi:10.1016/j.ajhg.2015.11.020

The citation for Beagle's IBD detection algorithm is:

B L Browning and S R Browning (2013). Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics 194(2):459-71.doi:10.1534/genetics.113.150029

Address of the bookmark: http://faculty.washington.edu/browning/beagle/beagle.html

Junior Research Fellow at Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram

Mon, 07 Nov 2016 10:27:06 -0600

Adv. # 22/ 2016
Applications are invited from suitable candidates for one position of Junior Research Fellow in a DST funded bioinformatics research project entitled "Major gene influxes in microbial genome evolution" in the Laboratory of Dr. Shijulal Nelson-Sathi at Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram.

ESSENTIAL QUALIFICATIONS:
We are looking for a motivated candidate with keen interest in bioinformatics and microbial genome evolution. The candidate must have a Master’s Degree in Bioinformatics, Computational Biology, Computer Science, Microbiology, Biology or a related field with good academic record.

DESIRABLE QUALIFICATIONS
Hands on research experience on handling next generation sequencing data and phylogenetic reconstruction methods. Excellent programming skills (Perl/Python/Java/Php) and experience in working on Unix/Linux platform is preferred. Furthermore; good knowledge is required in statistics (R/Matlab) and the application of bioinformatics analysis tools.

AGE:
Below 28 years as on 15th November, 2016.

EMOLUMENTS:
Rs. 25,000 + 20% HRA for NET/GATE qualified and Post Graduate in Professional Degree course qualified candidates and
Rs. 12,000/- + 20% HRA for others.

DURATION:
Initial appointment will be given for one year and further extension will be based on the performance till termination of the project.
Only those fulfilling the above criteria need apply and will be called for interview. In the event of more than 10 candidates being short-listed by screening the applications, a written test will be conducted before the selection interview and only those who are successful in the written test will be interviewed. No TA/ DA will be given for appearing in the interview.

Suitably qualified candidates may send applications in the prescribed format (Download here) with a photograph, a copy of full resume indicating the percentage of Marks obtained and attested photocopies of credentials & experience to reach the undersigned on or before 15th November, 2016. Envelopes must be superscripted with abbreviated title of the project, advertisement number and job title. Selection to the position will not entitle the candidate to any future positions at RGCB (permanent or otherwise). As with all project positions at RGCB, the position will be co terminus with end of the project.

RA Bioinformatics at School of Computational & Integrative Sciences, JNU, India

Fri, 18 Nov 2016 03:57:56 -0600

School of Computational & Integrative Sciences
Jawaharlal Nehru University
New Delhi – 110067

Date: Nov 11th. 2016 Last Date: Nov 25th. 2016

PROJECT ID: 632

The following posts are urgently required to be filled for the Department of Biotechnology, Government of India funded project entitled "Computational Core for Plant Metabolomics" administrated by Prof Indira Ghosh, School of Computational and Integrative Sciences, Jawaharlal Nehru University, New Delhi-110 067

NB:For all Bioinformatics posts, preference will be given to candidates with a good knowledge of Python and/or R. Knowledge of JAVA will also get a special consideration.

RA / Research Associate (Metabolic engineering/Computational Biologist)

Salary: Rs. 36000/- + HRA
Vacancy: 1
Essential Qualifications: PhD in Bioinformatics /Mathematics/Computer Science with experience in analyzing high throughput omics-based data/ system Biology/ Analysis of Network Biology. Published paper in the field is a must to prove the experience.
Desired Skills: Prior experience in handling and guiding bioinformatics, metabolomics data, planning of new research area in metabolic driven network , managing the project portal, preparing and filing reports etc. Will be expected to communicate with user groups and coordinate with LIMS group in Hyderabad and the Cheminformatics group in Delhi.

RA / Research Associate (Chemo-informatics/Computational Biologist)

Salary: Rs. 36000/- + HRA
Vacancy: 1
Essential Qualifications: PhD in Bioinformatics/ computational biology/ Biophysics/Computer Science. Computational and Chemical structure related experience is a necessary qualification proven by paper published and program developed.
Desired Skills: Research experience in Chemical scaffold mapping, in silico Spectral analysis, Biological Database Designing & Integration is required. Individual is responsible to develop methods related to metabolite identification, Testing and refining and integrate LIMS with IIIT Hyderabad and will be expected to communicate with user groups.

Project SRF (Bioinformatics/Programming)

Salary: As per DBT rules
Vacancy: 1
Essential Qualifications: Masters/B Tech in Basic Sciences with at least 2yrs of research experience in Bioinformatics/Computational Biology related to Database /portal building & maintenance ,high throughput data handling and analysis etc. For M.Sc/B.Tec, Published paper in peer-reviewed Journal and for M.Tech, thesis submission in computational biology is a must.

More at http://www.jnu.ac.in/Career/currentjobs.htm

HGA

Jit — Tue, 29 Nov 2016 07:25:53 -0600

HGA tool version 1.0 This tool helps to apply the Hierarchical Genome Assembly (HGA) method. The tool will apply: 1. Partitioning a given reads dataset into a given number of partitions. 2. Assembling each partitions using a pre-specified assembler (Velvet or SPAdes in this version) and using a given kmer size. 3. Merging all the assemblies of the partition. 4. Combining all the assemblies of the partition (using velvet with kmer value of 31). 5. Finaly, re-assembling the whole dataset with the merged contigs or the combined contigs, using a given kmer size.

https://github.com/aalokaily/Hierarchical-Genome-Assembly-HGA

Address of the bookmark: https://github.com/aalokaily/Hierarchical-Genome-Assembly-HGA

bipype

Jit — Thu, 01 Dec 2016 08:47:38 -0600

Bipype is a very useful program, which prepare a lot of types of bioinformatics analyses. There are three input options: amplicons, WGS (whole genome sequences) and metatranscriptomic data. If amplicons are input data, then bipype does reconstruction and pairs merging. After that biodiversity is searching. There are two types of searching depending on the amplicons types (ITS or 16S). If WGS are chosen, then bipype finds the SA coordinates of the input reads and generates alignments in the SAM format given single-end reads, aligns reads to reference sequence(s). All of these analyses will be shown with Krona program, which allows to show hierarchical data with pie charts.

Address of the bookmark: https://readthedocs.org/projects/bipype/

Structural variation: the hidden genomic treasure

Jit — Sat, 10 Dec 2016 16:19:09 -0600

Genome re-sequencing projects have revealed substantial amounts of genetic variation between individuals extending beyond single nucleotide polymorphisms (SNPs) and short indels. Structural Variations (SVs) and Copy Number Variations (CNVs) are a major source of genomic variation. However, compared to SNPs, accurate detection, genotyping and understanding of CNVs is lagging behind due to much greater analytical challenges related to SV/CNV detection and analysis. In our lab we analyse SVs/CNVs using high-throughput sequencing and different analytical approaches. The most‐studied structural variants are copy number variations (CNVs) which can be generated by several different mechanisms including non‐allelic homologous recombination, non‐homologous end‐joining and deoxyribonucleic acid (DNA) replication‐related fork stalling and template switching. CNVs are closely related to segmental duplications (SDs): SDs can stimulate the formation of CNVs and themselves started out as CNVs, but became fixed in a species. Structural variation can be neutral but has also influenced our phenotypic evolution, for example our susceptibility to disease and our ability to digest certain types of food. Our understanding of the extent of structural variation is increasing rapidly, but it will be much more difficult to understand its phenotypic consequences.

Structural variants (SVs) such as deletions, insertions, duplications, inversions and translocations litter genomes and are often associated with gene expression changes and severe phenotypes (ie. genetic diseases in humans). Recent studies on the functional aspects of different types of SVs have unveiled several cases of adaptive evolution. For example, inversions have been associated with ecological adaptations and may facilitate speciation. Due to their prevalent nature, SVs arguably have a large impact on genome evolution and should not be neglected when studying the genetics of adaptation and speciation. SVs were classically defined as chromosomal rearrangements larger than 1kb, but due to a higher resolution of new detection methods, smaller variants (between 50 and 1000 base pairs) can now be accurately assessed. Besides various methods of detection in next generation sequencing data (paired end mapping, split reads, and depth of coverage), array-based approaches have proven to be particularly useful for detecting copy number variations (CNVs). These technologies have enabled researchers to catalog a wide spectrum of SVs in many organisms and infer the effects of selection shaping their evolutionary trajectories.

Structure variation sequencing signature (Source: NatRev Genetics)

Related tools, databases and publications are listed below. If you know any interesing papers, please let us know in comment section:

Key concepts

Structural variation includes balanced variants such as inversions and translocations, and unbalanced ones such as duplications and deletions (copy number variations or CNVs).

Structural variants can arise by several mechanisms, including nonallelic homologous recombination (NAHR), nonhomologous end‐joining (NHEJ) and DNA replication‐based fork stalling and template switching (FoSTeS).

CNV is closely linked to segmental duplication, but is not exactly the same. Segmental duplications can stimulate CNV formation by NAHR, and themselves arise from CNVs that have become fixed.

Segmental duplications did not appear uniformly during the evolution of the Great Ape species, but rather during a burst of activity around the time of the divergence of gorilla from the human/chimpanzee ancestor.

Duplicated genes play a critical role in the evolution of a genome as they act as ‘spare parts’ than can evolve to perform new or more specialized functions.

Effects of structural variation on gene expression can be identified but only a few examples of the consequences for species biology have been documented.

Tools

CNVnatora tool for CNV discovery and genotyping from depth of read mapping.2011a,2011b

AGEa tools that implements an algorithm for optimal alignment of sequences with SVs.2011

BreakSeqa pipeline for annotation, classification and analysis of SVs at single nucleotide resolution.2010

PEMera computational and simulation framework for discovering SVs by paired-end read mapping.2009,2007

GASV https://code.google.com/archive/p/gasv/

PAIROSCOPE http://pairoscope.sourceforge.net/

SVDetect http://svdetect.sourceforge.net/Site/Home.html

BreakPtr, discovery of unbalanced structural variants (copy-number variants) with tiling microarrays Link

R Package https://www.bioconductor.org/help/course-materials/2010/EMBL2010/Practical-4-StructuralVariants.pdf

BreakSeq, structural variant genotyping using split reads Link

CopySeq, genotyping of unbalanced structural variants (copy-number variants) using read-depth Link

DELLY2, integrated structural variant discovery, genotyping and visualization in deep sequencing data Link

PEMer, structural variant discovery in 454 sequencing data by paired-end mapping Link

TIGER, transduction inference in germline genomes using short read data Link

MANTA https://github.com/Illumina/manta

SV-Bay https://github.com/InstitutCurie/SV-Bay

BreakDancer http://breakdancer.sourceforge.net/

Variation Hunter http://compbio.cs.sfu.ca/software-variation-hunter

Lumpy https://github.com/arq5x/lumpy-sv

ForestSV http://sebatlab.ucsd.edu/index.php/software-data

PBSuites for long reads https://sourceforge.net/projects/pb-jelly/

Visualization

The SV visualization tool: http://genomesavant.com/savant/

InGAP-SV (http://ingap.sourceforge.net/) that is nice tools for both detection and visualisation of severals kind of structural variations (Large insertions, translocation, deletion, inversions....)

Tools table: http://www.nature.com/nbt/journal/v29/n8/fig_tab/nbt.1904_T2.html

Variation Viewer https://www.ncbi.nlm.nih.gov/variation/view/

Papers

http://www.nature.com/nmeth/journal/v9/n2/full/nmeth.1858.html

http://journal.frontiersin.org/researchtopic/1412/structural-variations-in-genomes-ecological-and-evolutionary-implications

http://www.mi.fu-berlin.de/wiki/pub/ABI/GenomicsLecture10Materials/structural-variation.pdf

http://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-015-1479-3

https://www.ncbi.nlm.nih.gov/dbvar/content/overview/

http://www.nature.com/subjects/structural-variation

https://eichlerlab.gs.washington.edu/news/NatMeth_Feb2012.pdf

https://www.ncbi.nlm.nih.gov/pubmed/19477992 ***

https://www.ncbi.nlm.nih.gov/pubmed/22452995

http://biorxiv.org/content/early/2016/09/06/073833

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479793/

http://www.nature.com/articles/srep18501

http://www.genetics.org/content/202/1/351

http://www.cs.cmu.edu/~sssykim/teaching/s13/slides/Lecture_SVI.pdf

https://www.omicsonline.org/open-access/structural-variation-detection-from-next-generation-sequencing-2469-9853-S1-007.php?aid=69055

http://schatzlab.cshl.edu/presentations/2016/2016.01.12.PAG.Structural%20Variations.pdf

MyPro: A seamless pipeline for automated prokaryotic genome assembly and annotation

Neel — Thu, 15 Dec 2016 05:47:35 -0600

MyPro is an improved genomics software pipeline for prokaryotic genomes. MyPro is user-friendly and requires minimal programming skills. High-quality prokaryotic genome assembly and annotation can be obtained with ease. It performed better than de novo assemblers and contig integration software. Produces more contiguous assemblies, higher N50 values and lower number of contigs.

More at https://sourceforge.net/projects/sb2nhri/files/MyPro/

Address of the bookmark: http://www.sciencedirect.com/science/article/pii/S0167701215001207

Bioinformatics Contest 2017!

Neel — Fri, 23 Dec 2016 14:03:37 -0600

Bioinformatics Contest 2017! Rosalind is co-organizer.
Compete with thousands of people worldwide on bioinformatics problem solving.
Everything is online. Qualification round starts on January 23, 2017. Final is on Feb 18.

You will need to solve bioinformatics problems using programming. The goal is to correctly solve as many problems as possible within 24 hours. Some of them will be approximation problems and will have partial grades. All rounds will be held online, submissions will be auto-graded in real time.

Check more at http://contest.bioinf.me/

Good luck!