Key Findings:

1. Chromosomal Fusion and Its Molecular Signature:

   • The fusion site is located at 2q13–2q14.1 and is characterized by degenerate telomeric sequences appearing interstitially, indicating the historical head-to-head joining of ancestral chromosomes.
   • Despite being a signature of a past fusion event, these telomeric repeats are no longer functional and have undergone sequence degradation over time.

2. Extensive Duplications in the Surrounding Genomic Region:

   • The study identifies large-scale segmental duplications flanking the fusion site, with several of these regions duplicated and scattered across multiple chromosomes.
   • These duplications are predominantly located in subtelomeric and pericentromeric regions, suggesting their role in genomic instability and chromosomal evolution.

3. Paralogous Regions and Their Evolutionary Relationships:

   • A 168-kilobase (kb) segment near the fusion site has 98%–99% sequence identity with three regions on chromosome 9 (9pter, 9p11.2, and 9q13).
   • Another 67-kb region distal to the fusion site shows a high degree of homology to sequences in chromosome 22qter.
   • Additionally, a 100-kb segment exhibits 96% sequence identity with a region in chromosome 2q11.2.

4. Comparative Genomics and Evolutionary Implications:

   • By comparing the duplicated sequences and their arrangement in primates, the researchers traced the order of duplication events leading to their present distribution.
   • The presence of specific repetitive elements within these duplicated segments serves as evolutionary markers that help infer their historical rearrangements.
   • Some of these duplicated regions are associated with chromosomal inversion breakpoints, potentially contributing to evolutionary changes in primates.
   • Recurrent structural rearrangements in these regions have been linked to human chromosomal disorders.

Conclusions and Implications:

• The findings provide valuable insights into the structural evolution of human chromosome 2, which played a crucial role in human speciation.
• Understanding these segmental duplications and their evolutionary trajectories sheds light on genomic instability, which may contribute to human genetic diseases.
• The study highlights how large-scale chromosomal rearrangements, such as fusion and duplication, have influenced the evolutionary divergence of humans from other primates.

This research advances our understanding of human genome evolution and offers a foundation for studying the effects of structural variants in genetic disorders.

Name of the Post: Project Fellow

No. of the Post: 02 Two

Salary: Rs. 12000/- per month or Rs. 14000/- per month

Age Limit: Max. 28 years as on 10.06.2015 and relaxation as per rules

Required Job Profile:

Candidate must possess first class B.Tech. in bioinformatics or computational biology OR M.Sc. in bioinformatics or computational biology with fifty five percent marks OR M.Tech. in bioinformatics or computational biology with fifty five percent marks.

How to apply:

Eligible and interested candidates should need to appear for walk-in interview on 10.06.2015 at 9:00 am at the above mentioned address.

Refer to http://www.ihbt.res.in/recruit/AdvtNo7_2015.pdf

Address of the bookmark: https://github.com/dutilh/CAT

This bookmark is created to provide NGS online books links.

Address of the bookmark: http://en.wikibooks.org/wiki/Next_Generation_Sequencing_%28NGS%29/Print_version

Applications are invited for pre-selection of candidates for Ministry of Science and Technology, Department of Science and Technology INSPIRE Faculty Scheme: a component of “Assured Opportunity for Research Career (AORC)” under INSPIRE in the area of computational Biology/Systems Biology/Bioinformatics.

Candidates having done their B.Tech/B.E. and or M.Sc./M.Tech in Computer Science or Biotechnology and Ph.D. in Systems/ Computational Biology or Bioinformatics may apply in the following format prescribed by DST to the Director, Cluster Innovation Center, University Stadium, GC Narang Marg, University of Delhi, Delhi -11107. Detials of other qualification, age limits etc., please visit www.inspire-dst.gov.in.

Application on the prescribed format may be submitted by email to director@cic.du.ac.in before October 25, 2014. Selected candidates shall be called for an interview. The date, time and venue of the interview shall be informed by email/telephone. For more information about Cluster Innovation Center, please visit https://ducic.ac.in.

These notebooks are normal files that can be shared with colleagues, converted to other formats such as HTML or PDF, etc. You can share any publicly available notebook by using the IPython Notebook Viewer service which will render it as a static web page. This makes it easy to give your colleagues a document they can read immediately without having to install anything.

To learn more about using the IPython Notebook, you can visit our example collection, and you can read the documentation for all the details on how to use and configure the system. The Notebook Gallery showcases many interesting notebooks covering a variety of topics, from basic programming to advanced scientific computing.

More http://www.nature.com/news/interactive-notebooks-sharing-the-code-1.16261

http://ipython.org/ipython-doc/1/interactive/notebook.html

Reference http://ipython.org/notebook.html

The work in our lab has focussed on computational approaches to speed-up the finishing process. Specifically, we have explored the use of optical mapping and mate-pair data to augment assemblies and direct finishing experiments. The tools developed in our lab have been used in several finishing projects, producing complete genomes (and near-complete ones) with surprisingly little computational and experimental effort (Nagarajan et al., in submission). The executables (as well as source code) for these tools are freely available here:

• Scaffolding using Optical Restriction Mapping
  Optical Maps are global, ordered maps of restriction site locations in a genome. This information can be quite useful in scaffolding contigs from a shotgun assembly to guide the finishing process. A set of programs to exploit optical maps for assembly can be found here: SOMA v2.0 (63 MB tar.gz file). This version of SOMA contains several improvements to programs in v1.0 as well as new scripts for working with multiple maps, contig graphs and scaffolds. 
  
  
• Augmenting assemblies with mate-pair data
  Mate-pair information can be valuable in augmenting short-read assemblies and reconstructing the genome as larger scaffolds. AMOS-Hybrid is a pipeline written in the AMOS framework (open-source assembly tools) to merge arbitrary mated reads into an existing assembly and merge contigs and create scaffolds where possible. Source code and executables for AMOS-Hybrid are available here: AMOS-Hybrid v1.0 (142 MB tar.gz file). 
  
  
• Assembly and sequence-composition guided finishing
  Contigs from a shotgun assembly are typically linked together in a graph structure that can serve to guide finishing and in some case close gaps in-silico. Also, in many cases, sequence composition of contigs can provide clues to fill gaps in scaffolds. A set of scripts to automate some of these tasks can be found here: Finishing Scripts v1.0 (63 MB tar.gz file). 

http://www.cbcb.umd.edu/finishing/

Address of the bookmark: http://www.cbcb.umd.edu/finishing/

Relying on unique software architecture, PLAST takes full advantage of recent multi-core personal computers without requiring any additional hardware devices.

PLAST stands for Parallel Local Sequence Alignment Search Tool and is was published in BMC Bioinformatics.

PLAST is a general purpose sequence comparison tool providing the following benefits:

• PLAST is a high-performance sequence comparison tool designed to compare two sets of sequences (query vs. reference),
• Reduces the processing time of sequences comparisons while providing highest quality results,
• Contains a fully integrated data filtering engine capable of selecting relevant hits with user-defined criteria (E-Value, identity, coverage, alignment length, etc.),
• Does not require any additional hardware, since it is a software solution. It is easy to install, cost-effective, takes full advantage of multi-core processors and uses a small RAM footprint,
• Ready to be used on desktop computer, cluster, cloud as well as within distributed system running Hadoop.

https://plast.inria.fr/

Address of the bookmark: https://plast.inria.fr/