<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/42166?offset=710 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/bookmarks/view/17176/arvados Sat, 20 Sep 2014 16:54:21 -0500 https://bioinformaticsonline.com/bookmarks/view/17176/arvados <![CDATA[Arvados]]> Arvados is a free and open source bioinformatics platform for genomic and biomedical data. User can Store | Organize | Compute | Share the data for free. 

image

Address of the bookmark: https://arvados.org/

]]> Martin Jones https://bioinformaticsonline.com/opportunity/view/17504/postdoc-scientist-bioinformatics-at-ccmb Fri, 26 Sep 2014 19:58:41 -0500 <![CDATA[PostDoc Scientist Bioinformatics at CCMB]]> 1. Project Assistant/Junior Research Fellow/ Project Fellow [PA_JRF_PF]

a) M.Sc/or equivalent in biological sciences/related areas [Position Code: PA_JRF_PF_a]
b) B.E/B.Tech/ M.Sc in biotechnology/bioinformatics/computer science/Chemistry/Physics or MCA [Position Code: PA_JRF_PF_b]
c) M.Sc/or equivalent in wildlife sciences/ecology/environmental sciences or MBBS/BVSc/MVSc. [Position Code: PA_JRF_PF_c]

(Candidates with result awaited are NOT eligible to apply)

Upper Age limit 28years

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

2. Post Doctoral Fellow/Research Associate in multiple research areas [PDF_RA]

Ph.D. (submitted/awarded) in any branch of biological Sciences. Candidates with Ph.D. in other sciences are also encouraged to apply.

Experience in molecular biology, biochemistry, structural biology, cell biology, infectious disease, conservation genetics, veterinary science, reproductive biology, and molecular diagnostics is desired but not mandatory.

[Position Code: PDF_RA]

UpperAge limit 35years

Rs. 22000- 26000 (as sanctioned by the funding agency)

3. Post Doctoral Scientist Fellow [PDSF]

Ph.D in any of the following areas: bioinformatics, next generation sequencing, high throughput data analysis, proteomics, bio-statistics, computer science, information technology, computer hardware and networking/clustering, parallel processing.
[Position Code: PDSF]

Upper Age limit 40 years

Rs. 40000 consolidated (as sanctioned by the funding agency)

Download Application: Last date for apply online: 09th Oct 2014

Advertisement: www.ccmb.res.in//index.php?view=notifications&mid=0&id=71&nid=38

Apply online http://www.ccmb.res.in/positions/temp_notif/online_form.html

More at http://www.ccmb.res.in//index.php?view=notifications&mid=0&id=71&nid=38

]]> https://bioinformaticsonline.com/bookmarks/view/34324/orthognc-a-software-for-accurate-identification-of-orthologs-based-on-gene-neighborhood-conservation Tue, 14 Nov 2017 09:30:35 -0600 https://bioinformaticsonline.com/bookmarks/view/34324/orthognc-a-software-for-accurate-identification-of-orthologs-based-on-gene-neighborhood-conservation <![CDATA[OrthoGNC: A Software for Accurate Identification of Orthologs Based on Gene Neighborhood Conservation]]>

Orthology relations can be used to transfer annotations from one gene (or protein) to another. Hence, detecting orthology relations has become an important task in the post-genomic era. Various genomic events, such as duplication and horizontal gene transfer, can cause erroneous assignment of orthology relations. In closely-related species, gene neighborhood information can be used to resolve many ambiguities in orthology inference. Here we present OrthoGNC, a software for accurately predicting pairwise orthology relations based on gene neighborhood conservation. Analyses on simulated and real data reveal the high accuracy of OrthoGNC. In addition to orthology detection, OrthoGNC can be employed to investigate the conservation of genomic context among potential orthologs detected by other methods. OrthoGNC is freely available online at http://bs.ipm.ir/softwares/orthognc and http://tinyurl.com/orthoGNC.

http://www.comp.nus.edu.sg/~wongls/projects/orthoGNC/

Address of the bookmark: http://www.sciencedirect.com/science/article/pii/S1672022917301663

]]> Jit https://bioinformaticsonline.com/researchlabs/view/17652/arraygen-bioinformatics-genomics-group Sun, 28 Sep 2014 14:09:55 -0500 <![CDATA[ArrayGen Bioinformatics Genomics Group]]> ArrayGen is a global bioinformatics company which is a one stop solution for microarray designing and genomics data analysis. Our novel Array Design Approach Strategy (ADAS) aims to condense the time lag between demands of scientific community and manufacture industry, thereby expediting research processes.

ArrayGen specializes in Genomics data analysis and research, as we believe in the level of precision, predictability, benchmark-ability, and data analysis capability of genomics data over other forms of biological data. ArrayGen constantly strives to develop new solutions, and plug the existing gaps in the technological advancement of the field.

More http://www.arraygen.com/

]]> https://bioinformaticsonline.com/opportunity/view/17873/postdoc-position-in-protein-annotation-and-machine-learning-paris-france Sat, 04 Oct 2014 08:10:45 -0500 <![CDATA[Postdoc position in protein annotation and machine learning - Paris, France]]> We are interested in finding an excellent postdoc with interests in protein functional annotation, machine learning and computer grids. The position is open for 3.5 years at the Université Pierre et Marie Curie, in the heart of Paris.

Research topic: Protein function annotation, multiple probabilistic models, domain architecture, machine learning, combinatorial optimization, computer grid.

This project is run on the Laboratoire de Biologie Computationnelle et Quantitative UMR7238 CNRS-UPMC – Analytical Genomics team, headed by A.Carbone. It is co-advised with Pierre-Henri Wuillemin, Laboratoire d’Informatique de Paris 6 – Equipe DECISION.

The postdoc will be payed under a contract of Ingénieur de Recherche lasting 3.5 years and it is available from September 1st, 2014.

Group Web Page: http://www.lcqb.upmc.fr/AnalGenom/home.html

Ref. E-Mail: Alessandra Carbone alessandra.carbone@lip6.fr

]]> https://bioinformaticsonline.com/pages/view/33837/awesome-perl-frameworks-libraries-and-software-part-1 Fri, 07 Jul 2017 04:06:59 -0500 https://bioinformaticsonline.com/pages/view/33837/awesome-perl-frameworks-libraries-and-software-part-1 <![CDATA[Awesome perl frameworks, libraries and software - PART 1]]> A curated list of awesome Perl frameworks, libraries and software.

]]> Neel https://bioinformaticsonline.com/opportunity/view/18819/jrfsrf-at-jawaharlal-nehru-institute-ofadvanced-studies-jnias-hyderabad Fri, 31 Oct 2014 08:48:23 -0500 <![CDATA[JRF/SRF at Jawaharlal Nehru Institute ofAdvanced Studies (JNIAS), Hyderabad]]> Applications for Academic Projects in Biotechnology, Bioinformatics, Environmental Sciences and Computer Science & Engineering

About JNIAS
Jawaharlal Nehru Institute of Advanced Studies (JNIAS), Hyderabad has been established by Dr. D. Swaminadhan Research Foundation (DSRF), Hyderabad as a Research and Educational Institution with a view to contribute in developing advanced technologies and build „core competence‟ in specific areas. The activities of JNIAS involves: Education, Research Training and Innovations in the fields of Sciences, Technologies, Humanities and Social Sciences. It aims to blossom into an Advanced Institute of education and research with a reservoir of expertise and experience in the relevant fields and the necessary capability to harness multi-disciplinary research and studies. JNIAS has been recognized as an Advanced Research Institute by Jawaharlal Nehru Technological University Hyderabad (JNTUH), Hyderabad and Jawaharlal Nehru Technological University Anantapur (JNTUA), for offering Ph.D., P.G M.Phil, P.G Diploma and Training Programmes in Sciences and Engineering & Technology.

Jawaharlal Nehru Architecture and Fine Arts University (JNAFAU) Hyderabad also recognized JNIAS for offering UG, PG degree in Architecture.

Projects & Facilities

JNIAS offers wide range of projects:

Biotechnology area:

Molecular Biology
Microbiology
Nanotechnology
Bioinformatics (Schrodinger Software)
In Silico studies & Drug Designing
Sequence analysis
Protein structure function studies

Registration
Tuition Fees: Interested students need to pay the following tuition fees:
1. Six Month’s Project: Rs. 20,000/-
2. Four Month’s Project: Rs. 15,000/-
3. Three Month’s Project: Rs. 10,000/-
4. One Month - Hands on Training : Rs. 8,000/-

For enquires call:
91-7893203414 (Biotechnology), 91-9949582263 (Environmental Sciences) 91-8977369305 (Computer Science)

Interested student may download the application from the website (www.jnias.in) and send the hard copy of the completed application forms and Curriculum Vitae along with the Demand Draft drawn on any nationalized Banks in favor of “The Registrar, JNIAS, Secunderabad”. Application forms can be sent through email to academicprojects@jnias.in

Address
Jawaharlal Nehru Institute of Advanced Studies (JNIAS)
6th Floor, Buddha Bhavan, M.G Road,
Secunderabad - 500 003
Andhra Pradesh, India
Tele/Fax: 040- 27541551; 27541553
Mobile: 08885541554
Web site: www.jnias.in

Brochure : https://drive.google.com/file/d/0B3zPwhgA-u-nU0dyMFd2OWcxNUpSTWNYc0xDSGs5UDI4UDNB/view?usp=sharing

]]> https://bioinformaticsonline.com/bookmarks/view/34461/drawid-user-friendly-java-software-for-chromosome-measurements-and-idiogram-drawing Mon, 27 Nov 2017 16:03:49 -0600 https://bioinformaticsonline.com/bookmarks/view/34461/drawid-user-friendly-java-software-for-chromosome-measurements-and-idiogram-drawing <![CDATA[DRAWID: user-friendly Java software for chromosome measurements and idiogram drawing]]> "DRAWID has number of advantages including a user-friendly interactive interface, possibility for simultaneous chromosome and FISH/GISH/banding signal measurement and idiogram drawing as well as number of useful functions facilitating the procedure of chromosome analysis," explain the scientists.

"The output of the program is Microsoft XL table and publish-ready idiogram picture."

Find their paper openly published with us at: https://doi.org/10.3897/compcytogen.v11i4.20830

Address of the bookmark: https://compcytogen.pensoft.net/articles.php?id=20830

]]> Robert M Willioms https://bioinformaticsonline.com/bookmarks/view/18382/google-genomics Fri, 17 Oct 2014 02:14:14 -0500 https://bioinformaticsonline.com/bookmarks/view/18382/google-genomics <![CDATA[Google Genomics]]> Google Genomics provides an API to store, process, explore, and share DNA sequence reads, reference-based alignments, and variant calls, using Google's cloud infrastructure.

  • Store alignments and variant calls for one genome or a million.
  • Process genomic data in batch by running principal component analysis or Hardy-Weinberg equilibrium, in minutes or hours, by using parallel computing frameworks like MapReduce.
  • Explore data by slicing alignments and variants by genomic range across one or multiple samples -- for your own algorithms or for visualization; or interactively process entire cohorts to find transition/transversion ratios, allelic frequency, genome-wide association and more using BigQuery.
  • Share genomic data with your research group, collaborators, the broader community, or the public. You decide.

Google Genomics is implementing the API defined by the Global Alliance for Genomics and Health for visualization, analysis and more. Compliant software can access Google Genomics, local servers, or any other implementation.

Address of the bookmark: https://cloud.google.com/genomics/

]]> Reshma Khatun