• Using state of the art tools, easily extended for other viruses

• Tool and database updates for critical components via Conda

• Built using modern design patterns with Conda and Snakemake

• Extensible and easy to customize

• Submission Ready Genomes

• Customizable reporting with comprehensive visualization

https://ikim-essen.github.io/uncovar/

Github https://github.com/IKIM-Essen/uncovar

Address of the bookmark: https://ikim-essen.github.io/uncovar/

Personal Genome Variation: SVs
Human Genome Annotation: Processing Next-Gen Sequencing Data
Comparative Genomics: Pseudogenes as Molecular Fossils
Protein Structure and Function: Macromolecular Motions
Analysis of Diverse Networks
Genomics at the Forefront of Data Science

Lab page: http://www.gersteinlab.org/

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.

Applications are invited for admission to the Ph.D. programme in the Department of Biophysics, Molecular Biology & Bioinformatics, University of Calcutta for the year 2014 from eligible candidates who would be placed under the departmental teachers or affiliated research supervisors for the pursuance of their Ph.D. programme.

Candidates are requested to download the Ph.D. admission test application form from the University website and apply in the prescribed proforma by paying Rs. 100/- through a challan available through different University Cash counters. The challan is to be duly forwarded through the Head, Department of Biophysics, Molecular Biology & Bioinformatics, University of Calcutta.

The completed application form with a copy of the paid challan is to be submitted to the office of the Department by April 16, 2014.

Syllabus for the Test: The questions for the admission test and interview will be based on topics in the following areas:

Mathematical methods, Molecular and Cellular Biophysics, Molecular and Cell Biology, Biochemistry, Genetics, Plant Biology, Developmental biology, Neurobiology, Biotechnology and Bioinformatics.

However, the interview will be primarily based on the research emphasis of the candidate. Candidates must clearly indicate the program in which they want to apply.

Date of Admission test : April 22, 2014 (Tuesday)

Date of publication of selection list for the interview : April 22, 2014(Tuesday)

Date of Interview : April 23, 2014 (Wednesday)

Number of vacancies for the Ph.D. programme : 12

Reservation policy will be followed as per rules.

Candidates with valid NET/GATE/M.Phil. or equivalent qualifications are not required to appear at the admission test but would need to qualify in the interview.

Advertisement:

http://www.caluniv.ac.in/admission%20notice/PHD_BIO_PHYSICS.pdf

More @ http://www.nature.com/news/pubmed-opens-for-comment-1.14023

News source Nature.

Welcome to phylobabble.org, a discussion forum for phylogenetic theory and applications. The primary goal of this forum is to discuss best practice and new developments in phylogenetics. Although we do have a Troubleshooting category for getting feedback on analyses, this is not a help site for running phylogenetics programs.

A great place to chat about phylogenetics for researchers and the broader community of students and science-interested citizens. 

Address of the bookmark: http://phylobabble.org/

Like other indel callers, Scalpel works by performing de novo assembly of regions of interest, so that misalignment to the reference genome cannot obscure the presence of an insertion or deletion. Scalpel's innovation is to repeatedly check its assembly before comparing to the reference genome, to account for simple sequence repeats that are a regular source of error in indel calling. When Scalpel assembles an exon, it collects reads that map to that exon (including partial matches), splits them into k-mers, and creates a de Bruijn graph to span the exon; however, if it detects repeats in the map, it iteratively increases the size of the k-mers by one base until the repeats are eliminated. This ensures that the final assembly of the exon is highly accurate while minimizing compute time.

The Cold Spring Harbor team's validation of Scalpel, published over the weekend in Nature Methods, compares Scalpel's performance on a live whole exome against HaplotypeCaller and SOAPindel. The donor is an individual with serious neurological disorders, which may be linked to a high incidence of indels. One thousand indels from this individual's exome, called by one or more of the informatics pipelines, were selected for focused resequencing. This resequencing revealed a 77% true positive rate for Scalpel calls, dramatically better than the rates for either of the competing tools; Scalpel performed especially well with indels longer than five base pairs, a traditional weak point for indel callers.

Finally, the authors demonstrate Scalpel's use on a large set of genetic data from nearly 600 families who donated samples to the Simons Simplex Collection, a project of the Simons Foundation Autism Research Initiative. Scalpel found a very high enrichment for indels in children affected by autism, compared with their unaffected siblings, a pattern that persisted even after excluding common variants.

    1. Support for the new FWR4 annotation feature in the AIRR format, both in standard format and in the AIRR alignment format.

    2. The previous “-penalty” parameter was renamed as -V_penalty to be consistent with other IgBLAST penalty options.

    3. Restored constant internal BLAST search parameters for domain annotation (i.e., FWR/CDR) such that this process is not influenced by user parameters.

    4. Corrected FWR/CDR annotations for certain mouse VK and rat VH germline genes. 

IgBLAST 1.15.0 is available for download from the BLAST FTP area. See the the new manual on GitHub for information about setting up and running IgBLAST.

 If you have any questions or concerns, please contact blast-help@ncbi.nlm.nih.gov

Algorithms scripts @ https://github.com/jschendel/bioinformatics-algorithms-coursera

Address of the bookmark: https://github.com/jorvis/biocode