<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/30440?offset=1080 https://bioinformaticsonline.com/bookmarks/view/43909/human-complete-genome Wed, 06 Jul 2022 06:42:55 -0500 https://bioinformaticsonline.com/bookmarks/view/43909/human-complete-genome <![CDATA[Human Complete Genome]]> Telomere-to-telomere consortium

We have sequenced the CHM13hTERT human cell line with a number of technologies. Human genomic DNA was extracted from the cultured cell line. As the DNA is native, modified bases will be preserved. The data includes 30x PacBio HiFi, 120x coverage of Oxford Nanopore, 70x PacBio CLR, 50x 10X Genomics, as well as BioNano DLS and Arima Genomics HiC. Most raw data is available from this site, with the exception of the PacBio data which was generated by the University of Washington/PacBio and is available from NCBI SRA.

A UCSC browser is available for v2.0 (as well as legacy v1.0 and v1.1 versions). An interactive dotplot visualization of all genomic repeats is also available from resgen.io. Known issues identified in the assembly are tracked at CHM13 issues.

 

MORE at https://github.com/marbl/CHM13

Address of the bookmark: https://www.science.org/doi/10.1126/science.abj6987

]]> Shruti Paniwala https://bioinformaticsonline.com/videolist/watch/18866/celebrating-crystallography-an-animated-adventure Fri, 31 Oct 2014 15:59:00 -0500 https://bioinformaticsonline.com/videolist/watch/18866/celebrating-crystallography-an-animated-adventure <![CDATA[Celebrating Crystallography - An animated adventure]]> NEW: Now with French or Spanish subtitles (click on the 'Captions' icon to select). Plus... Watch the French language version here: https://www.youtube.com/watch?v=PvLu7BOsJhM X-ray crystallography is arguably one of the greatest innovations of the twentieth century, but not that many people know what it is or how it came about. Join us on an animated journey through the 100 year history of crystallography -- from the pioneering work of William and Lawrence Bragg in 1913 to the surface of Mars! Narrated by structural biologist Stephen Curry and produced by animation company 12foot6, the film explores the extraordinary history of crystallography. To date 28 Nobel Prizes have been awarded to projects related to the field and X-ray crystallography remains the foremost technique in determining the structures of a huge range of complex molecules. This film was produced in celebration of the Bragg Centenary and was funded by STFC. Watch more science videos on the amazing Ri Channel: http://richannel.org Watch more animations from 12foot6: http://12foot6.com/ The Ri is on Twitter: http://twitter.com/ri_science and Facebook: http://www.facebook.com/royalinstitution Subscribe for the latest science videos: http://richannel.org/newsletter]]> https://bioinformaticsonline.com/pages/view/44371/steps-to-find-all-the-repeats-in-the-genome Thu, 31 Aug 2023 02:43:28 -0500 https://bioinformaticsonline.com/pages/view/44371/steps-to-find-all-the-repeats-in-the-genome <![CDATA[Steps to find all the repeats in the genome !]]>

To find repeats in a genome from 2 to 9 length using a Perl script, you can use the RepeatMasker tool with the "--length" option[0]. Here's a step-by-step guide:

  1. Install RepeatMasker: First, you need to install RepeatMasker on your system. You can download it from the RepeatMasker website[0].
  1. Prepare the genome sequence: Make sure you have the genome sequence in a FASTA file format. Let's assume the file is named "genome.fasta".

./RepeatMasker -pa <number_of_processors> -nolow -norna -no_is -div <divergence_value> -lib RepeatMaskerLib.embl -gff -xsmall -small -poly -species <species_name> -dir <output_directory> -length <min_length>-<max_length> genome.fasta

Replace the following placeholders with appropriate values:

  • <number_of_processors>: The number of processors/threads you want to use for parallel processing.
  • <divergence_value>: The divergence value for the species you are analyzing. You can find divergence values for different species in the RepeatMasker documentation[0].
  • <species_name>: The name of the species you are analyzing.
  • <output_directory>: The directory where you want the output files to be saved.
  • <min_length> and <max_length>: The minimum and maximum lengths of the repeats you want to find (in this case, 2 and 9).
  1. Analyze the output: RepeatMasker will generate several output files, including a .out file. You can parse this file to extract the information you need. There is a Perl tool called "one_code_to_find_them_all.pl" that can help you parse RepeatMasker output files[0]. You can download it from the source provided.
  1. Use the provided Perl script: Once you have the "one_code_to_find_them_all.pl" script, you can run it to conveniently parse the RepeatMasker output files. Here's an example of how to use it:

perl one_code_to_find_them_all.pl --rm <RepeatMasker_out_file> --length <length_file>

 

Replace <RepeatMasker_out_file> with the path to your RepeatMasker .out file, and <length_file> with the path to a file containing the lengths of the reference elements.

This script will generate several output files, including .log.txt and .copynumber.csv, which contain quantitative information about the identified repeat elements.

Remember to adjust the parameters and options according to your specific needs and the characteristics of your genome.

]]> Neel https://bioinformaticsonline.com/opportunity/view/19086/postdoctoral-fellowship-in-bioinformatics Sat, 08 Nov 2014 14:41:14 -0600 <![CDATA[Postdoctoral fellowship in Bioinformatics]]> A two-year post-doctoral position is available in the Biocomputing group of the Sapienza University led by Anna Tramontano to work on either genomics research or structural bioinformatics, focusing on the study of relevant biomedical problems.
The ideal candidate should be motivated and talented, hold a PhD degree, have good programming skills, a grasp of statistical methods and an understanding of biology.
Experience in the development of computational biology methods would be an added value.

Good communication skills and fluency in spoken and written English are required.
Please apply sending a curriculum vitae, the names of at least two referees and a letter of motivation describing past experience and future goals to anna.tramontano@uniroma1.it with subject: “Application for post-doctoral position November 2014 YOUR LAST NAME”

Deadline: No later than November 28th, 2014.
Duration: 2 years

Salary on grant: Commeasured to the experience of the candidate
Contact Person (Referent): Anna Tramontano
Ref. E-Mail: anna.tramontano@uniroma1.it
Group Web Page: http:/www.biocomputing.it

]]> https://bioinformaticsonline.com/bookmarks/view/44628/uncovar-workflow-for-transparent-and-robust-virus-variant-calling-genome-reconstruction-and-lineage-assignment Mon, 05 Aug 2024 23:01:29 -0500 https://bioinformaticsonline.com/bookmarks/view/44628/uncovar-workflow-for-transparent-and-robust-virus-variant-calling-genome-reconstruction-and-lineage-assignment <![CDATA[UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment]]> UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment

  • 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/

]]> BioStar https://bioinformaticsonline.com/opportunity/view/19137/centre-for-systems-biology-bioinformatics-panjab-university-vacancy-of-research-fellow Wed, 12 Nov 2014 06:18:54 -0600 <![CDATA[Centre for Systems Biology & Bioinformatics, Panjab University vacancy of Research Fellow]]> Applications are invited along with complete bio-data and attested copies of certificates of qualifications, experience etc. for the one post of
Research Fellow and one post of Program Assistant under PURSE Grant of the University in Centre for Systems Biology & Bioinformatics, UIEAST, Panjab University, Chandigarh which is tenable till the period of the project

Essential Qualification
For Research Fellow:-
M.Sc. in Systems Biology and Bioinformatics / Life
Sciences with minimum 55% marks.
Preference will be given to NET/GATE/ICMR qualified candidates without fellowship however, candidates who have cleared the Panjab University Ph.D. entrance test in Systems Biology & Bioinformatics will also be eligible.

Applications should be reach on or before 19-11-2014 in the office of the undersigned. Interview will be held on 21-11-2014 in the office of the Coordinator, Centre for Systems Biology & Bioinformatics, South Campus, Block-3, Sector-25, Panjab University, Chandigarh. No TA/DA will be paid.

more at http://jobs.puchd.ac.in/includes/jobs/2014/20141110143634-Advertisement.pdf

]]> https://bioinformaticsonline.com/blog/view/44775/genomic-architecture-surrounding-the-fusion-site-of-human-chromosome-2 Tue, 04 Mar 2025 12:26:29 -0600 https://bioinformaticsonline.com/blog/view/44775/genomic-architecture-surrounding-the-fusion-site-of-human-chromosome-2 <![CDATA[Genomic architecture surrounding the fusion site of human chromosome 2]]> The article "Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes (https://pmc.ncbi.nlm.nih.gov/articles/PMC187548/)" explores the genomic architecture surrounding the fusion site of human chromosome 2. This fusion event is a key evolutionary marker distinguishing humans from other great apes, as humans have 46 chromosomes while chimpanzees, gorillas, and orangutans possess 48. The fusion occurred through an end-to-end joining of two ancestral chromosomes, which remain separate in nonhuman primates.

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.

]]> LEGE https://bioinformaticsonline.com/opportunity/view/19248/bioinformatics-jrfrasrf-position-at-institute-of-cytology-and-preventive-oncology-icpo Wed, 19 Nov 2014 20:16:32 -0600 <![CDATA[Bioinformatics JRF/RA/SRF position at Institute of Cytology and Preventive Oncology (ICPO)]]> Institute of Cytology and Preventive Oncology (ICPO) I-7, Sector-39, Noida-201301

Candidates having the below mentioned qualifications may appear for walk in interview at ICPO on 2nd December 2014 between 10.00 AM and 12:00 PM under the below time bound projects under Dr. Subhash M. Agarwal, Scientist C. The post is purely temporary and co-terminus with the project.

Research Assistant (One)
25650/- consolidated
Discovery of EGFR secondary mutant inhibitors using structure based screening approach (ICMR)
Duration: 7 months

Essential: M.Sc./ M.Tech in Bioinformatics or any other related subject with good academic record.

Desirable: Experience in scripting and molecular docking.

Below 30 years

Junior Research Fellow (One)

16,000 + 30% HRA = Rs. 20800/-

Identification of novel inhibitors targeting EGFR using an integrated ligand and structure based approach (DBT)

Duration: 9 months

Essential: M.Sc./ M.Tech in Bioinformatics or any other related subject with good academic record. Candidates with CSIR-UGC / ICMR, NET qualification will be preferred

Desirable: Experience in scripting, QSAR and molecular docking.

Below 28 years

Interested eligible candidates may send their applications with Bio-data by email at (smagarwal@gmail.com) or by post addressed to Dr. Subhash M Agarwal, Scientist C, Institute of Cytology and Preventive Oncology (ICPO) I-7, Sector-39, Noida-201301 so as to reach latest by 1st December, 2014. The candidates may appear for interview at ICPO along with 3 copies of CV, photo and relevant certificates of qualifications in original and reprints of publications at the time of interview. It should be noted that No TA/DA will be paid for the walk in Interview.

Advertisement: www.icpo.org.in/advt-walk-in-interview.docx

]]> https://bioinformaticsonline.com/bookmarks/view/11175/next-generation-sequencingngs-books Fri, 30 May 2014 04:48:04 -0500 https://bioinformaticsonline.com/bookmarks/view/11175/next-generation-sequencingngs-books <![CDATA[Next generation sequencing(NGS) books]]> Employing different technologies, the purpose of NGS platform is to decode the identity or modification on the nucleotides. NGS platforms evolve quickly and capture the main stream.

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

]]> Abhimanyu Singh https://bioinformaticsonline.com/news/view/19556/genome-origami Fri, 12 Dec 2014 22:48:17 -0600 https://bioinformaticsonline.com/news/view/19556/genome-origami <![CDATA[Genome Origami]]> There are several interesting factoid about our genomes, one of them is their folding. If we stretched out the DNA in a single cell, which is only a few millionths of an inch wide, it would span more than six feet. In other word, the size of six feet DNA fold themself to fit in a few millionths of an inch wide space. These DNA folding is a dynamic process that changes over time (!!). Researchers around the world have been trying to understand how DNA folds itself up so efficiently, and a recent post on the NIH Director’s Blog highlights new research illustrating how the human genome folds inside the cell’s nucleus, as well as how DNA folding affects gene regulation. The research team created this delightful video that demonstrates the principles involved using origami art.

http://bioinformaticsonline.com/videolist/watch/19555/a-3d-map-of-the-human-genome

Researchers have been working to determine how cells regulate gene expression for nearly as long as we’ve known about DNA. How, for example, do nerve cells know to turn off only nerve cell genes and turn off bone cell genes? DNA folding loops are part of the answer. This research team, which published their findings in a paper in Cell http://www.cell.com/cell/abstract/S0092-8674%2814%2901497-4 , found that the number of loops is much lower than expected. There are only 10,000 loops instead of the predicted millions, and they form on/off switches in DNA.

More at http://www.eurekalert.org/pub_releases/2014-12/ru-3mr121114.php

Reference http://www.cell.com/cell/abstract/S0092-8674%2814%2901497-4

]]> Jitendra Narayan