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

Address of the bookmark: http://seqmule.openbioinformatics.org/en/latest/

Hagfish requires a reference sequence and a paired end re-sequencing data set. Hagfish has more power the larger the insert size of the paired end library is.

Quick links: Installation,Operation, Read mappers, Hagfish scripts, Hagfish plots

Address of the bookmark: https://github.com/mfiers/hagfish

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

Now my main interests are in gene regulation, where we work on promoter analysis; non-coding RNA, where miRNAs and structure prediction are the main areas; and protein structure, where the group is working on methods for structure prediction from sequence. To read more about these topics, please see the research pages.

Lab page @ http://wiki.binf.ku.dk/User:Krogh

The course Bioinformatics Algorithms (Part 1) by Pavel Pevzner, Phillip E. C. Compeau, and Nikolay Vyahhi from University of California, San Diego will be offered free of charge to everyone on the Coursera platform. Sign up at http://www.coursera.org/course/bioinformatics.

Lab page @ http://krishna.gs.washington.edu/index.html

(A) Regulatory System Analysis with respect to microRNAs

(B) Computational Epigenomics & Regulomics:

(C) Computational issues with Next Generation Sequencing:

Department of Biotechnology,
Institute of Himalyan Bioresources Technology
CSIR, Palampur(Himachal Pradesh), India.
Email: ravishihbt.res.in; ravish9gmail.com

More @ http://scbb.ihbt.res.in/SCBB_dept/Lab_Member.php

More @ http://www.bioinf.manchester.ac.uk/dbbrowser/index.php

1. Project Junior Research Fellow / Project Assistant

Last Date: 11th Nov 2013

Qualification B.Tech (Comp. Sci.), B.Tech/M.Tech (Bioinformatics), MCA, M.Sc. (Mathematics/Statistics)

Desirable Qualifications: Programming in FORTRAN/ C /PERL, Web application technologies

Upper Age limit 28

Rs.12000 / Rs.16000 (as sanctioned by the funding agency)

General terms and conditions:

Positions are purely temporary and co-terminus with the project.

HRDG (CSIR) prevailing guidelines are applicable these positions.

All categories of applicants are required to submit online application.

Enhancement of stipend to Project JRF to Project SRF will be with the due recommendation of Principal Investigator and approval of the Director on the evaluation of the 3 member Standing Committee consisting of Chairperson at the level of Chief Scientist, Coordinator of the JRFs/RAs/PDFs and the Principal Investigator of the Project.

The age relaxation as per HRDG (CSIR) norms: SC/ST/OBC/Women/Physically Handicapped persons – five years.

The Stipend normally be fixed at Rs.22000/- for Research Associates/Post Doc. Fellows. However, a selected RA/PDF may be placed in the higher start of stipend if there is ample justification and such recommendation is made by the Selection Committee. Based on the recommendation with justification by the PI and approval of the Director, person getting stipend at lower rate may be elevated to higher rate subject to availability of the funds in the project.

Recruitment will be based on initial screening based on qualifications and experience criteria and also based on suitability of the candidates to the nature of research project. This screening will be followed by written test followed / interview. After completing this process, candidates will be shortlisted and appointed in specific project subjects as and when appropriate positions become available. The pool of selected candidates will be valid for six months.

Remunerations indicate are maximum admissible and will depend upon the availability of funds and subject to conditions applicable to projects from different funding agencies at the time of recruitment.

Apply : http://www.ccmb.res.in/positions/projects/temp_positions.php

Form download : http://www.ccmb.res.in/positions/projects/oct-2013/pdf_download.php