BOL: Related items

Software and Tools to detect structure variation with long reads !!

Archana Malhotra — Wed, 15 Mar 2017 14:31:09 -0500

Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs detectable by short-read data.

With Single Molecule, Real-Time (SMRT) Sequencing, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:

Uncover missing heritability linked to structural variation
Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease
Resolve structural variation across the complete size spectrum with basepair resolution

Following are the SV tools, which can assist you to achieve your goal.

Sniffles: Structural variation caller using third generation sequencing

Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled!

More at https://github.com/fritzsedlazeck/Sniffles

MultiBreak-SV: It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.

There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.

More at https://github.com/raphael-group/multibreak-sv

Parliament: A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?

Publication about the algorithm and “…the first long-read characterization of structural variation in a diploid human personal genome…” (HS1011) - “Assessing structural variation in a personal genome—towards a human reference diploid genome”

More at https://sourceforge.net/projects/parliamentsv/

https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf

PBHoney: the structural variation discovery tool

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Read The Paper http://www.biomedcentral.com/1471-2105/15/180/abstract

More at https://sourceforge.net/projects/pb-jelly/

SMRT-SV: Structural variant and indel caller for PacBio reads

Structural variant (SV) and indel caller for PacBio reads based on methods from Chaisson et al. 2014.

SMRT-SV provides an official software package for tools described in Chaisson et al. 2014 and adds several key features including the following.

Unified variant calling user interface with built-in cluster compute support
Small indel calling (2-49 bp)
Improved inversion calling (screenInversions)
Quality metric for SV calls based on number of local assemblies supporting each call
Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions
Genotyping of SVs with Illumina paired-end reads from WGS samples

More at https://github.com/EichlerLab/pacbio_variant_caller

Bioinformatics: Introduction to PERL

Archana Malhotra — Thu, 11 Jul 2013 09:49:37 -0500

This course is aimed at those new to programming and provides an introduction to programming using Perl. By the end of this course, attendees should be able to write simple Perl programs and to understand more complex Perl programs written by others. The course will be taught using the online Learning Perl materials created by Sofia Robb of the University of California Riverside. Further information is available.

NGS & Bioinformatics Summit Europe

Sat, 13 Jul 2013 17:02:34 -0500

NGS & Bioinformatics Summit Europe

Conference

7th to 8th October 2013
Berlin, Germany

Website: https://www.gtcbio.com/conference/ngseurope-overview
Contact person: Kristen Starkey

We welcome you to join us at GTC’s NGS & Bioinformatics Summit Europe on October 7-8, 2013 in Berlin, Germany.

Organized by: GTC
Deadline for abstracts/proposals: 7th September 2013

LoRDEC: a hybrid error correction program for long, PacBio reads

Jit — Mon, 10 Apr 2017 04:16:09 -0500

LoRDEC is a program to correct sequencing errors in long reads from 3rd generation sequencing with high error rate, and is especially intended for PacBio reads. It uses a hybrid strategy, meaning that it uses two sets of reads: the reference read set, whose error rate is assumed to be small, and the PacBio read set, which is then corrected using the reference set. Typically, the reference set contains Illumina reads.

Usually, errors in PacBio reads include many insertions and deletions, and comparatively less substitutions. LoRDEC can correct errors of all these types.
After correction, a larger portion of the sequence of PacBio reads is usable for detection of region of similarity with other sequences, for aligning them to the contigs of an assembly, etc.

Why is LoRDEC different?

It is efficient and can process large read data sets, included from eukaryotic or vertebrate species, on a usual computing server, and even works on desktop/laptop computers.
It adopts a novel graph based approach: it builds a succinct De Bruijn Graph (DBG) representing the short reads, and seeks a corrective sequence for each erroneous region of a long read by traversing chosen paths in the graph.

Address of the bookmark: http://www.atgc-montpellier.fr/lordec/

Boku Chair of Bioinformatics

Sun, 14 Jul 2013 12:37:23 -0500

The Bioinformatics group at Boku University has two main areas of interest, underpinning a common goal, the study of complex systems in living organisms. To overcome the engineered redundancies and combinatorial effects prevalent in higher eukaryotes, novel views augmenting the classical gene by gene approaches are required. We combine
Work to establish improved quantitative experimental assays (such as microarrays or differential in-gel electrophoresis) and
Development of modern computational methods (such as hierarchical probabilistic models or integration of heterogeneous data sources)

Link @ http://bioinf.boku.ac.at/

DeCoSTAR - Detection of Co-evolution

Jit — Fri, 14 Apr 2017 06:27:25 -0500

DeCoSTAR is a software which aims at reconstructing ancestral gene or genome organizations, in the form of sets of neighborhood relations -adjacencies- between pairs of ancestral genes or gene domains.
Ancestral genes or domains are deduced from reconciled gene trees in a context of birth, speciation, duplication, loss, transfer, which are either given as input or computed with the ecceTERA package, to which DeCoSTAR is integrated. DeCoSTAR constructs parsimonious scenarios of gains and breakages of adjacencies, and contains in particular all the features of previous software DeCo, DeCoLT, ArtDeCo and DeClone. It provides statistical supports on ancestral adjacencies, or the possibility to handle badly assembled genomes.
DeCoSTAR is able to reconstruct the histories of domains inside genes, including gene fusion and fission events, as well as ancestral genome structures for dozens of whole genomes from all kingdoms of life in a few minutes.

Address of the bookmark: http://pbil.univ-lyon1.fr/software/DeCoSTAR/

6 PhD Students @ TU Dresden

Sun, 14 Jul 2013 13:42:06 -0500

At TU Dresden, Faculty of Computer Science, the DFG Research Training Group GRK 1907 “Role-based Software Infrastructures for continuous-context-sensitive Systems” offers the positions of 6 PhD Students (E 13 TV-L)

for applicants interested in performing high-quality research on the connection between software engineering, database systems, and theoretical computer science as well as their applications in bioinformatics and business informatics. The research programme will start on October 1, 2013 until 30.09.2016. The period of employment is governed by the Fixed Term Research Contracts Act (Wissenschaftszeitvertragsgesetz – WissZeitVG).

This research programme is a joint activity of Professors Lehner, Assmann, Baader, Baier, Schill, Schlegel, Schroeder, and Strahringer at TU Dresden. Alongside their research, an individual mentoring and qualification approach are arranged with specialized courses that prepare them optimally for their research, a research seminar where they can meet internationally renowned researchers in the field, and soft skills and language courses.

Requirements: Applicants should have an excellent academic record, and hold a MSc (or an equivalent university degree) in computer science or related disciplines (such as mathematics, bioinformatics or business informatics). Fluency in spoken and written English is required. Applicants with a good knowledge of software engineering or one of the application areas mentioned above are preferred. TU Dresden is committed to increase the proportion of women in research.

Applications from women are particularly welcome. The same applies to disabled people.

Please send enquiries to: wolfgang.lehner@tu-dresden.de

Applications consist of a CV, the names of two referees, transcipts of documents summarizing their academic performance, and a statement of interest. Application by email in pdf format is preferred, and should be submitted to wolfgang.lehner@tu-dresden.de in an electronically signed and encrypted form by July 30, 2013 (stamped arrival date of the university central mail service applies). Alternatively, applications can be sent to: TU Dresden, Fakultät Informatik, Institut für Systemarchitektur, Prof. Dr.-Ing. Wolfgang Lehner, 01062 Dresden, Germany.

Shortlisted candidates will be invited to Dresden in the middle of August to give a presentation on their Master’s thesis and discuss their research interest with the participating professors. Candidates that have not yet finished their degree when they send in their application should send preliminary transcripts of their academic records as well as a letter by the thesis adviser that comments on their progress so far and on the expected date of completion of their MSc or equivalent degree.

RA Bioinformatics at JNU, New Delhi, INDIA

Thu, 27 Apr 2017 03:29:58 -0500

School of Computational & Integrative Sciences
Jawaharlal Nehru University
New Delhi-110067, INDIA

Date: April 24th. 2017 Last Date: May 6th 2017
PROJECT ID: 632

The following posts are urgently required to be filled for the Department of Biotechnology, Government of India funded project jointly running with IIIT-Hyderabad & JNU, 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 the posts, preference will be given to candidates with a good knowledge of Python and/or R in UNIX platform , knowledge of JAVA will also get a special consideration.

1. 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/Analysis of Network Biology/Chemoinformatics/Computational Biology related Software development. Published paper in the field is a must to prove the experience. Special consideration will be given if have experience in Industry, teaching & product development.

Desired Skills: Prior experience in handling and guiding bioinformatics, metabolomics data, planning of new research area in metabolic driven network , collaborating with industry , 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.

2. Project SRF (Network model building/Systems biology integration)

Salary*: Rs.18000/- + HRA

Vacancy: 1

Essential Qualifications: M.Tech in Computational Biology with project experience or Masters / B.Tech in Basic Sciences with at least 2yrs of research experience in Bioinformatics/Mathematical Model building using Computational Biology tools & related Database / Network analysis etc. For M.Sc/B.Tech, Published paper in peer-reviewed Journal whereas for M.Tech, the degree obtained in computational biology is a must.

Desired Skills: Will be expected to manage ongoing research activities in LIMS, interact with LIMS group, build network model using data compiled by experimentalist, prepare and file reports and associated project work etc. Familiarity with plant systems biology and genomics /metabolite resources related to plant metabolomics is desirable.

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

The Laboratoire de genomique fonctionelle

Sun, 14 Jul 2013 13:03:18 -0500

One persistent challenge of post genome biology remains the determination of the functions of all potential genes. In mammals this task is formidable given that a single gene can produce numerous protein isoforms through alternative pre-mRNA splicing. Protein isoforms from a single gene can have diverse, and in some cases antagonistic, functions. AS plays a pivotal biological role in protein diversity and developmental regulation. It is now believed that AS occurs in up to 74% of human genes, making it more of a rule than an exception.

Link @ http://lgfus.ca/public/

Jayaram Lab

Sun, 14 Jul 2013 14:04:37 -0500

Responsible (a) for developing Chemgenome, Bhageerath & Sanjeevini methods & softwares for genome annotation, protein tertiary structure prediction & computer aided drug design respectively, (b) for setting up a multi-teraflop supercomputing facility for Bioinformatics & Computational Biology at IIT Delhi, and (c) for making the hardware and software freely accessible at (www.scfbio-iitd.res.in) to the global scientific user community.

Faculty facilitator/Founder Director for two start-up companies (Leadinvent incubated at IIT, Delhi from 2006-2009 & Novoinformatics, under incubation at IIT Delhi since 2011).

Research Interest
Genome Analysis, Protein Structure Prediction and Drug Design.

Link @ http://www.scfbio-iitd.res.in/