BOL: Related items

geNomad: Identification of mobile genetic elements

LEGE — Sun, 31 Aug 2025 06:40:17 -0500

geNomad is a tool that identifies virus and plasmid genomes from nucleotide sequences. It provides state-of-the-art classification performance and can be used to quickly find mobile genetic elements from genomes, metagenomes, or metatranscriptomes.

Address of the bookmark: https://portal.nersc.gov/genomad

Flanker

Rahul Nayak — Sat, 27 Feb 2021 22:04:53 -0600

Flanker, a Python package which performs alignment-free clustering of gene flanking sequences in a consistent format, allowing investigation of mobile genetic elements (MGEs) without prior knowledge of their structure. Flanker can be flexibly parameterised to finetune outputs by characterising upstream and downstream regions separately and investigating variable lengths of flanking sequence.

Address of the bookmark: https://github.com/wtmatlock/flanker

GPOPSIM: a simulation tool for whole-genome genetic data

Jit — Wed, 17 Jan 2018 03:47:46 -0600

GPOPSIM is a simulation tool for pedigree, phenotypes, and genomic data, with a variety of population and genome structures and trait genetic architectures. It provides flexible parameter settings for a wide discipline of users, especially can simulate multiple genetically correlated traits with desired genetic parameters and underlying genetic architectures.

Address of the bookmark: https://github.com/SCAU-AnimalGenetics/GPOPSIM

Scalpel

Shruti Paniwala — Wed, 20 Aug 2014 02:07:58 -0500

A team from Cold Spring Harbor Laboratory has released an algorithm, called Scalpel, for finding insertions and deletions in next generation sequencing data sets. Scalpel, which is open source and available for download on SourceForge, outperformed the popular tools GATK HaplotypeCaller and SOAPindel in test runs on both simulated and real whole human exomes.

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.

HELIANO: A fast and accurate tool for detection of Helitron-like elements

LEGE — Tue, 13 Aug 2024 07:16:34 -0500

Helitron-like elements (HLE1 and HLE2) are DNA transposons. They have been found in diverse species and seem to play significant roles in the evolution of host genomes. Although known for over twenty years, Helitron sequences are still challenging to identify. Here, we propose HELIANO (Helitron-like elements annotator) as an efficient solution for detecting Helitron-like elements.

https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkae679/7730539?login=true

Address of the bookmark: https://github.com/Zhenlisme/heliano/

Chromonomer: a tool set for repairing and enhancing assembled genomes through integration of genetic maps and conserved synteny

Jit — Mon, 17 Feb 2020 05:38:46 -0600

Chromonomer is a program designed to integrate a genome assembly with a genetic map. Chromonomer tries very hard to identify and remove markers that are out of order in the genetic map, when considered against their local assembly order; and to identify scaffolds that have been incorrectly assembled according to the genetic map, and split those scaffolds.

Address of the bookmark: http://catchenlab.life.illinois.edu/chromonomer/

dnaPipeTE: de-novo assembly & annotation Pipeline for Transposable Elements

Rahul Nayak — Sat, 02 Dec 2017 18:25:44 -0600

dnaPipeTE (for de-novo assembly & annotation Pipeline for Transposable Elements), is a pipeline designed to find, annotate and quantify Transposable Elements in small samples of NGS datasets. It is very useful to quantify the proportion of TEs in newly sequenced genomes since it does not require genome assembly and works on small datasets (< 1X).

dnaPipeTE is developped by Clément Goubert, Laurent Modolo and the TREEP team of the LBBE: http://lbbe.univ-lyon1.fr/-Equipe-Elements-transposables-.html?lang=en
You can find the original publication in GBE here: https://academic.oup.com/gbe/article/7/4/1192/533768

output examples of quantification and TE landscape (relative age) produced by dnaPipeTE

Address of the bookmark: https://github.com/clemgoub/dnaPipeTE

HTTDB - Horizontally transferred transposable elements database

Rahul Nayak — Tue, 23 Jan 2018 12:07:31 -0600

Transposons or Transposable elements (TEs) are "mobile genes" capable of mobilization from one genomic location to another through non-homologous recombination. As this movement is mediated by its own proteins and does not contribute to the survival of the host that it inhabits, they are known as selfish genomic parasites. Despite their capacity for transposition inside genomes, they can frequently transpose the species boundaries and consequently migrate from one species to another. Such phenomenon is called Horizontal Transposons Transfer. HTT was first discovered by Daniels et al. (1984) when analysing a P element that was transferred from Drosophila willistoni to D. melanogaster. Since then, many more cases have been documented in the literature. Moreover, in the last years, such discoveries have been boosted by the unprecedented amount of new genomes available. Despite the recognition of HTT as a common phenomenon in recent years, it is still difficult to draw major conclusions about HTT patterns, such as where in the tree of life these cases are more frequently found. This is mainly due to the historical bias and lack of studies in many taxa. To date, there has been no easy way to visualise each TE or host species, and should be further analysed in order to provide a more comprehensive view of such phenomena. Based on these concerns, we developed the HTT database to keep an updated repository of HTT events in all eukaryotes, allowing not only TE specialists to add new events and search the database, but also non-specialists. Moreover, we expanded the database to include Horizontal-Virus Transfer also known as endogenization events which is characterized by the stable integration a viral genomic fragment into the host genome.

https://www.ncbi.nlm.nih.gov/pubmed/29315358

Address of the bookmark: http://lpa.saogabriel.unipampa.edu.br:8080/httdatabase/

Bioinformatics Programme Officer @ International Centre for Genetic ICGEB Engineering and Biotechnology

Fri, 23 Nov 2018 03:50:16 -0600

The following vacancies are available in the DBT Apex Biotechnology Information project at ICGEB, New Delhi, India. These positions are available for a period of approx. two years, however, initial appointment offer will be for 6 months, which will be extended based on performance of work. Salaries will be offered as per DBT, educational qualification and experience. Depending on requirements, selected candidates may be required to work on location from the Department of Biotechnology, New Delhi. Shortlisted candidates will be invited for an interview at ICGEB. Only the selected candidates will be informed individually. No TA/DA or accommodation will be offered to the candidates attending the interview.

4 Programme Officer 1
5 Technical Research Assistant 1

Minimum Educational Qualification, desirable experience and expected duties:

4: The applicants should be Postgraduates with experience in Data collection and Statistics, especially in Biotechnology-related data.

Expected duties: Collection of Biotechnology related information from India, to facilitate the Apex BTIC experts committee review of programmes at centres and R&D programs funded by DBT.

5: The applicants should be Postgraduates in Science with experience in Bioinformatics-related projects.
Expected duties: The candidates will assist the senior staff of the centre in daily activities and help in the preparation of the Annual Training Calendar, seminar and training podcasts/videos, repository of training material and Apex BTIC Newsletter.

Interested candidates should submit their full, updated Curriculum Vitae with a detailed description of relevant experience, along with two references by December 14th, 2018, addressed to, The Chairperson, DBT- Apex BTIC, ICGEB, Aruna Asaf Ali Marg, New Delhi 110067, Email: abtic@icgeb.res.in, kindly write “Application for DBT Apex BTIC vacancy” in the subject of the email or envelope, if sending by post.

Advertisement: http://www.icgeb.org/tl_files/Vacancies/dbt-abtic-vac-annmntrevsk.pdf

GEnView: A phylogeny based comparative genomics software to analyze the genetic environment of genes

Abhi — Tue, 28 Dec 2021 01:49:03 -0600

A phylogeny based comparative genomics software to analyze the genetic environment of genes. The user can select one or several taxa and provide one or several reference protein(s). Genomes and plasmids (based on user choice) will be downloaded from the NCBI Assembly/NR database and searched for the respective gene. Alternatively, custom genomes can be provided. User selected stretches (20kbp by default) of the genes genetic environment are extracted, annotated and aligned between all genomes. The sequences are then visualized, enabling comparison of synteny and gene content.

More at https://pubmed.ncbi.nlm.nih.gov/34951622/

Address of the bookmark: https://github.com/EbmeyerSt/GEnView