<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/33973?offset=390 https://bioinformaticsonline.com/bookmarks/view/44537/the-atcc-genome-portal Wed, 15 May 2024 14:24:16 -0500 https://bioinformaticsonline.com/bookmarks/view/44537/the-atcc-genome-portal <![CDATA[The ATCC Genome Portal]]> The ATCC Genome Portal (AGP, https://genomes.atcc.org/) is a database of authenticated genomes for bacteria, fungi, protists, and viruses held in ATCC’s biorepository. It now includes 3,938 assemblies (253% increase) produced under ISO 9000 by ATCC. Here, we present new features and content added to the AGP for the research community.

Address of the bookmark: https://genomes.atcc.org/

]]> Abhi https://bioinformaticsonline.com/bookmarks/view/44489/proksee Wed, 27 Mar 2024 11:11:54 -0500 https://bioinformaticsonline.com/bookmarks/view/44489/proksee <![CDATA[Proksee]]> Proksee is an expert system for genome assembly, annotation and visualization. To begin using Proksee, provide a complete genome sequence, sequencing reads or a CGView/Proksee map JSON file.

Please Cite the Following
Grant JR, Enns E, Marinier E, Mandal A, Herman EK, Chen C, Graham M, Van Domselaar G, and Stothard P
Nucleic Acids Research, 2023, gkad326, https://doi.org/10.1093/nar/gkad326

Address of the bookmark: https://proksee.ca/

]]> LEGE 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/blog/view/44754/early-genome-screening-the-new-health-horoscope Thu, 02 Jan 2025 19:44:36 -0600 https://bioinformaticsonline.com/blog/view/44754/early-genome-screening-the-new-health-horoscope <![CDATA[Early Genome Screening: The New Health Horoscope!]]> In an era where precision medicine is reshaping healthcare, genome screening is emerging as the modern equivalent of a health horoscope. It offers insights into our biological "stars," unraveling predispositions to various conditions and empowering individuals with knowledge to navigate their health journeys proactively. But how reliable is this "horoscope," and how does it impact our lives?

Understanding Genome Screening

Genome screening involves analyzing an individual's DNA to identify genetic variations that may influence health and disease susceptibility. This can range from simple single-gene tests to comprehensive whole-genome sequencing. By peering into our genetic blueprint, we can uncover risks for conditions like cancer, diabetes, cardiovascular diseases, and even rare genetic disorders.

The process is straightforward: a saliva or blood sample is collected, and advanced sequencing technologies decipher the genetic code. The results provide a personalized health map, guiding lifestyle modifications, preventive measures, or medical interventions.

A Shift from Reactive to Proactive Healthcare

Traditional healthcare often focuses on treating diseases after they manifest. Genome screening flips this model on its head, enabling a shift toward prevention and early intervention. For instance:

  • Cancer Risk Management: Individuals with BRCA1 or BRCA2 gene mutations can opt for enhanced screening programs or preventive surgeries to mitigate their risk of breast and ovarian cancers.

  • Cardiovascular Health: Genetic predispositions to conditions like familial hypercholesterolemia can prompt early cholesterol monitoring and lifestyle adjustments.

  • Rare Diseases: Identifying carriers of genetic disorders can aid in family planning and reduce the incidence of inherited conditions.

The Ethical and Practical Concerns

While genome screening offers incredible promise, it is not without challenges:

  1. Accuracy and Interpretation: Genetic predisposition does not guarantee disease. Misinterpretation of results can lead to unnecessary anxiety or unwarranted medical interventions.

  2. Privacy and Data Security: Genetic data is highly sensitive. Ensuring robust data protection measures is crucial to prevent misuse.

  3. Accessibility and Equity: High costs and limited availability may restrict access to genome screening, exacerbating health disparities.

Balancing Science and Pseudoscience

The comparison of genome screening to horoscopes isn’t entirely unfounded. Both offer predictive insights, but the scientific foundation of genome screening distinguishes it from astrology. Unlike the alignment of celestial bodies, genetic predictions are based on rigorous data and evidence. However, the probabilistic nature of genetic predispositions underscores the importance of interpreting results in conjunction with clinical and lifestyle factors.

The Road Ahead

As genome screening becomes more affordable and integrated into routine healthcare, its potential to transform lives is immense. Policymakers, healthcare providers, and genetic counselors must collaborate to ensure ethical implementation, public awareness, and equitable access.

Imagine a future where your genetic "horoscope" is a trusted guide, not just a prediction. Early genome screening could help chart a healthier path for generations, making it a cornerstone of personalized medicine. After all, our genes might just hold the key to unlocking a future of better health and well-being.

 

]]> LEGE https://bioinformaticsonline.com/bookmarks/view/44902/hite-a-fast-and-accurate-dynamic-boundary-adjustment-approach-for-full-length-transposable-elements-detection-and-annotation-in-genome-assemblies Sat, 20 Sep 2025 09:34:04 -0500 https://bioinformaticsonline.com/bookmarks/view/44902/hite-a-fast-and-accurate-dynamic-boundary-adjustment-approach-for-full-length-transposable-elements-detection-and-annotation-in-genome-assemblies <![CDATA[HiTE: a fast and accurate dynamic boundary adjustment approach for full-length Transposable Elements detection and annotation in Genome Assemblies]]> HiTE is a Python software that uses a dynamic boundary adjustment approach to detect and annotate full-length Transposable Elements in Genome Assemblies. In comparison to other tools, HiTE demonstrates superior performance in detecting a greater number of full-length TEs.

panHiTE

We have developed panHiTE, a comprehensive and accurate pipeline for TE detection in large-scale population genomes. It has been successfully applied to hundreds of plant population genomes, demonstrating its effectiveness and scalability.

For detailed instructions, please refer to the panHiTE tutorial.

Address of the bookmark: https://github.com/CSU-KangHu/HiTE

]]> LEGE https://bioinformaticsonline.com/blog/view/30874/important-journals-blogs-and-forums-for-bioinformaticians Wed, 08 Feb 2017 09:15:31 -0600 https://bioinformaticsonline.com/blog/view/30874/important-journals-blogs-and-forums-for-bioinformaticians <![CDATA[Important Journals, Blogs and Forums for Bioinformaticians]]> Journals. Most journals have RSS feeds for their current updates.

Blogs. Some of these blogs are very relevant to bioinfo jobs. Others are more personal interest.

  • Variance Explained: David Robinson’s blog (Data Scientist at Stack Overflow, works in R and Python).
  • Global Biodefense: News on pathogens, outbreaks, and preparedness, with periodic posts on genomics and bioinformatics-related developments and funding opportunities.
  • In between lines of code: Lex Nederbragt’s blog on biology, sequencing, bioinformatics, …
  • Simply Statistics: A statistics blog by Rafa Irizarry, Roger Peng, and Jeff Leek.
  • Bits of DNA: Reviews and commentary on computational biology by Lior Pachter (fair warning: dialogue here can get a bit heated!).
  • Blue Collar Bioinformatics: articles related tool validation and the open source bioinformatics community.
  • Microbiome Digest – Bik’s Picks: A daily digest of scientific microbiome papers, by Elisabeth Bik, Science Editor at uBiome.
  • Living in an Ivory Basement: Titus Brown’s blog on metagenomics, open science, testing, reproducibility, and programming.
  • Enseqlopedia: James Hadfield’s blog on all things NGS.
  • Epistasis Blog: Jason Moore’s computational biology blog.
  • RStudio Blog: announcements about new RStudio functionality, updates about the tidyverse, and more.
  • nextgenseek.com: Next-Gen Sequencing Blog covering new developments in NGS data & analysis.
  • RNA-Seq Blog: Transcriptome Research & Industry News.
  • The Allium: We all need a little humor in our lives. Like The Onion, but for science.

Forums.

]]> Jit https://bioinformaticsonline.com/bookmarks/view/33960/mgra-breakpoint-graphs-and-ancestral-genome-reconstructions Tue, 25 Jul 2017 08:48:25 -0500 https://bioinformaticsonline.com/bookmarks/view/33960/mgra-breakpoint-graphs-and-ancestral-genome-reconstructions <![CDATA[MGRA: Breakpoint graphs and ancestral genome reconstructions]]> MGRA (Multiple Genome Rearrangements and Ancestors) is a tool for reconstruction of ancestor genomes and evolutionary history of extant genomes.

It takes as an input a set of genomes represented as sequences of genes (or synteny blocks) and produces such sequences for ancestral genomes at the internal nodes of the phylogenetic tree.

The phylogenetic tree may be also specified completely or partially, in the latter case MGRA can reconstruct conserved ancestral regions (CARs) of the ancestral genome of interest.

Since version 2 MGRA supports gene insertion and deletions in addition to genome rearrangements and allows the input genomes to have different gene content.

It also can reconstruct most plausible phylogenetic tree based on the rearrangement characters.

Address of the bookmark: http://mgra.cblab.org/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/34377/genomicus-genome-browser-that-enables-users-to-navigate-in-genomes-in-several-dimensions Sat, 18 Nov 2017 16:10:16 -0600 https://bioinformaticsonline.com/bookmarks/view/34377/genomicus-genome-browser-that-enables-users-to-navigate-in-genomes-in-several-dimensions <![CDATA[Genomicus: genome browser that enables users to navigate in genomes in several dimensions]]> Genomicus is a genome browser that enables users to navigate in genomes in several dimensions: linearly along chromosome axes, transversaly across different species, and chronologicaly along evolutionary time.

Once a query gene has been entered, it is displayed in its genomic context in parallel to the genomic context of all its orthologous and paralogous copies in all the other sequenced metazoan genomes. Moreover, Genomicus stores and displays the predicted ancestral genome structure in all the ancestral species within the phylogenetic range of interest.

All the data on extant species displayed in this browser are from Ensembl.

Address of the bookmark: http://genomicus.biologie.ens.fr/genomicus-90.01/cgi-bin/search.pl

]]> Jit https://bioinformaticsonline.com/bookmarks/view/34488/scripts-for-the-analysis-of-hgt-in-genome-sequence-data Wed, 29 Nov 2017 16:44:10 -0600 https://bioinformaticsonline.com/bookmarks/view/34488/scripts-for-the-analysis-of-hgt-in-genome-sequence-data <![CDATA[Scripts for the analysis of HGT in genome sequence data.]]> Scripts for the analysis of HGT in genome sequence data

Address of the bookmark: https://github.com/reubwn/hgt

]]> Jit https://bioinformaticsonline.com/bookmarks/view/34569/ksnp30-snp-detection-and-phylogenetic-analysis-of-genomes-without-genome-alignment-or-reference-genome Fri, 08 Dec 2017 16:48:40 -0600 https://bioinformaticsonline.com/bookmarks/view/34569/ksnp30-snp-detection-and-phylogenetic-analysis-of-genomes-without-genome-alignment-or-reference-genome <![CDATA[kSNP3.0: SNP detection and phylogenetic analysis of genomes without genome alignment or reference genome]]> Sept. 20, 2017 Version 3.1 released. Major upgrade. Version 3.1 fixes the problems with SNP annotation that arose when NCBI discontinued use of GI numbers. Please read carefully the Preface (page 3) and the File of annotated genomes section (pages 9-10) in the version 3.1 User Guide. Thanks to Tom Slezak for revsing the get_genbank_file3 script and to Tod Stuber (USDA) for testing version 3.1 even though he doesn't need the annotation feature. All users are encouraged to upgrade to version 3.1. 

Address of the bookmark: https://sourceforge.net/projects/ksnp/files/

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