96 datasets found
  1. Data Object 1-1 (Supplemental Data 1-S1)

    • figshare.com
    xlsx
    Updated Nov 12, 2023
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    Colbie Reed (2023). Data Object 1-1 (Supplemental Data 1-S1) [Dataset]. http://doi.org/10.6084/m9.figshare.24548935.v1
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    xlsxAvailable download formats
    Dataset updated
    Nov 12, 2023
    Dataset provided by
    figshare
    Figsharehttp://figshare.com/
    Authors
    Colbie Reed
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Supplemental Data 1-S1. Timeline of important events shaping contemporary bioinformatics and comparative genomics. Timeline is not intended to be absolutely comprehensive of each of the observed fields, their respective histories. See footnotes for key review publications, sources in addition to those listed in Reference column. Field of contributions are color-coded accordingly: purple= computer science/engineering, blue= legislation/government action, biology= green, economic/markets= orange, academic institution= pink

  2. Bioinformatics Market Analysis, Size, and Forecast 2025-2029: North America...

    • technavio.com
    Updated Jun 19, 2025
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    Technavio (2025). Bioinformatics Market Analysis, Size, and Forecast 2025-2029: North America (US, Canada, and Mexico), Europe (France, Germany, Italy, and UK), APAC (China, India, and Japan), and Rest of World (ROW) [Dataset]. https://www.technavio.com/report/bioinformatics-market-industry-analysis
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    Dataset updated
    Jun 19, 2025
    Dataset provided by
    TechNavio
    Authors
    Technavio
    Time period covered
    2021 - 2025
    Area covered
    Germany, United Kingdom, Canada, Europe, France, United States, Global
    Description

    Snapshot img

    Bioinformatics Market Size 2025-2029

    The bioinformatics market size is forecast to increase by USD 15.98 billion at a CAGR of 17.4% between 2024 and 2029.

    The market is experiencing significant growth, driven by the reduction in the cost of genetic sequencing and the development of advanced bioinformatics tools for Next-Generation Sequencing (NGS) technologies. These advancements have led to an increase in the volume and complexity of genomic data, necessitating the need for sophisticated bioinformatics solutions. However, the market faces challenges, primarily the shortage of trained laboratory professionals capable of handling and interpreting the vast amounts of data generated. This skills gap can hinder the effective implementation and utilization of bioinformatics tools, potentially limiting the market's growth potential.
    Companies seeking to capitalize on market opportunities must focus on addressing this challenge by investing in training programs and collaborating with academic institutions. Additionally, data security, data privacy, and regulatory compliance are crucial aspects of the market, ensuring the protection and ethical use of sensitive biological data. Partnerships with technology providers and service organizations can help bridge the gap in expertise and resources, enabling organizations to leverage the power of bioinformatics for research and development, diagnostics, and personalized medicine applications.
    

    What will be the Size of the Bioinformatics Market during the forecast period?

    Explore in-depth regional segment analysis with market size data - historical 2019-2023 and forecasts 2025-2029 - in the full report.
    Request Free Sample

    The market is experiencing significant growth, driven by the increasing demand for precision medicine and the exploration of complex biological systems. Structural variation and gene regulation play crucial roles in gene networks and biological networks, necessitating advanced tools for SNP genotyping and statistical analysis. Precision medicine relies on the identification of mutations and biomarkers through mutation analysis and biomarker validation.
    Metabolic networks, protein microarrays, CDNA microarrays, and RNA microarrays contribute to the discovery of new insights in evolutionary biology and conservation biology. The integration of these technologies enables a comprehensive understanding of gene regulation, gene networks, and metabolic pathways, ultimately leading to the development of novel therapeutics. Protein-protein interactions and signal transduction pathways are essential in understanding protein networks and metabolic pathways. Ontology mapping and predictive modeling facilitate data warehousing and data analytics in this field.
    

    How is this Bioinformatics Industry segmented?

    The bioinformatics industry research report provides comprehensive data (region-wise segment analysis), with forecasts and estimates in 'USD million' for the period 2025-2029, as well as historical data from 2019-2023 for the following segments.

    Application
    
      Molecular phylogenetics
      Transcriptomic
      Proteomics
      Metabolomics
    
    
    Product
    
      Platforms
      Tools
      Services
    
    
    End-user
    
      Pharmaceutical and biotechnology companies
      CROs and research institutes
      Others
    
    
    Geography
    
      North America
    
        US
        Canada
        Mexico
    
    
      Europe
    
        France
        Germany
        Italy
        UK
    
    
      APAC
    
        China
        India
        Japan
    
    
      Rest of World (ROW)
    

    By Application Insights

    The molecular phylogenetics segment is estimated to witness significant growth during the forecast period. In the dynamic and innovative realm of bioinformatics, various technologies and techniques are shaping the future of research and development. Molecular phylogenetics, a significant branch of bioinformatics, employs molecular data to explore the evolutionary connections among species, offering enhanced insights into the intricacies of life. This technique has been instrumental in numerous research domains, such as drug discovery, disease diagnosis, and conservation biology. For instance, it plays a pivotal role in the study of viral evolution. By deciphering the molecular data of distinct virus strains, researchers can trace their evolutionary history and unravel their origins and transmission patterns.

    Furthermore, the integration of proteomic technologies, network analysis, data integration, and systems biology is expanding the scope of bioinformatics research and applications. Bioinformatics services, open-source bioinformatics, and commercial bioinformatics software are vital components of the market, catering to the diverse needs of researchers, industries, and institutions. Bioinformatics databases, including sequence databases and bioinformatics algorithms, are indispensable resources for storing, accessing, and analyzing biological data. In the realm of personalized medicine and drug di

  3. o

    Computational_Genomics

    • explore.openaire.eu
    Updated May 4, 2023
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    Rodolfo Aramayo (2023). Computational_Genomics [Dataset]. http://doi.org/10.5281/zenodo.7897471
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    Dataset updated
    May 4, 2023
    Authors
    Rodolfo Aramayo
    Description

    Computational_Genomics_ Instructor: Name: Dr. Rodolfo Aramayo, PhD Email address: raramayo@tamu.edu Location: Department of Biology Room 412A, Biological Sciences Building West (BSBW) Texas A&M University College Station, TX 77843-3258 Description: This repository contains materials used to teach Computational Genomics in the Spring 2023. This course was heavily based on materials extracted from and/or adapted from: ENSEMBL, and ENSEMBL Tutorials and Examples. Genomes. 2nd edition Current Topics in Genome Analysis Galaxy Training Materials Course Topics: History of Bioinformatics History of Genomics Cloning Basics The Carbon Clarke Formula Introduction to Galaxy Genome Files: FASTA Format Uploading Data into Galaxy Introduction to Text Manipulations Introduction to Regular Expressions Introduction to Gene Models and Tables: GFF3 Files Introduction to Genome Annotation Cyverse User Portal Introduction to Genome Browsers (ENSEMBL) Introduction to Comparative Genomics Working with Genome Files Introduction to Sequence Analysis Computational Arithmetics Author: Rodolfo Aramayo (raramayo@tamu.edu) License: All content produced in this site is licensed by: CC BY-NC-SA 4.0

  4. [DATA_SCIENCE] Interviews PomBase Users, January-February 2016

    • figshare.com
    • data.niaid.nih.gov
    doc
    Updated Jun 3, 2023
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    Sabina Leonelli (2023). [DATA_SCIENCE] Interviews PomBase Users, January-February 2016 [Dataset]. http://doi.org/10.6084/m9.figshare.5484010.v1
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    docAvailable download formats
    Dataset updated
    Jun 3, 2023
    Dataset provided by
    Figsharehttp://figshare.com/
    Authors
    Sabina Leonelli
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Here you find the transcripts of interviews collected by Sabina Leonelli as part of the ERC project "The Epistemology of Data-Intensive Science". You also find the information sheet provided to interviewees, which gives you the context for this project. Further information and related publications can be found at www.datastudies.eu. One paper that specifically makes use of these interviews was published by Sabina Leonelli in the journal Philosophy of Science in 2018, under the title "Data in Time: Time-Scales of Data Use in the Life Sciences." The transcripts document yeast researchers' attitudes to data curation and the use of databases in their field. Researchers have consented to have these transcripts made available as Open Data. Other interviewees did not give consent, so those transcripts are held securely by the research team in Exeter.

  5. blog-bioinformatics.science - Historical whois Lookup

    • whoisdatacenter.com
    csv
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    AllHeart Web Inc, blog-bioinformatics.science - Historical whois Lookup [Dataset]. https://whoisdatacenter.com/index.php/domain/blog-bioinformatics.science/
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    csvAvailable download formats
    Dataset provided by
    AllHeart Web
    Authors
    AllHeart Web Inc
    License

    https://whoisdatacenter.com/index.php/terms-of-use/https://whoisdatacenter.com/index.php/terms-of-use/

    Time period covered
    Mar 15, 1985 - Jul 16, 2025
    Description

    Explore the historical Whois records related to blog-bioinformatics.science (Domain). Get insights into ownership history and changes over time.

  6. bioinformatics-outsourcing-service.com - Historical whois Lookup

    • whoisdatacenter.com
    csv
    Updated Jan 13, 2020
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    AllHeart Web Inc (2020). bioinformatics-outsourcing-service.com - Historical whois Lookup [Dataset]. https://whoisdatacenter.com/domain/bioinformatics-outsourcing-service.com/
    Explore at:
    csvAvailable download formats
    Dataset updated
    Jan 13, 2020
    Dataset provided by
    AllHeart Web
    Authors
    AllHeart Web Inc
    License

    https://whoisdatacenter.com/terms-of-use/https://whoisdatacenter.com/terms-of-use/

    Time period covered
    Mar 15, 1985 - Jun 12, 2025
    Description

    Explore the historical Whois records related to bioinformatics-outsourcing-service.com (Domain). Get insights into ownership history and changes over time.

  7. f

    PERM application history

    • froghire.ai
    Updated Apr 6, 2025
    + more versions
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    FrogHire.ai (2025). PERM application history [Dataset]. https://www.froghire.ai/major/Bioinformatics%20And%20Statistics
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    Dataset updated
    Apr 6, 2025
    Dataset provided by
    FrogHire.ai
    Description

    This linear chart displays the number of PERM cases filed for graduates in Bioinformatics And Statistics from 2020 to 2023, highlighting the trends and changes in sponsorship over the years. It provides a deep dive into how graduates in this specific major have engaged with potential employers for permanent residency in the U.S., illustrating the major’s effectiveness in connecting students with career opportunities that lead to permanent residency

  8. Digitisation Tools , Data Quality and Georeferencing

    • figshare.com
    application/cdfv2
    Updated Jan 18, 2016
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    Vishwas Chavan (2016). Digitisation Tools , Data Quality and Georeferencing [Dataset]. http://doi.org/10.6084/m9.figshare.828568.v1
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    application/cdfv2Available download formats
    Dataset updated
    Jan 18, 2016
    Dataset provided by
    figshare
    Figsharehttp://figshare.com/
    Authors
    Vishwas Chavan
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    This presentation was given at the "Regional Workshop on Strategies for Digitization and Mobilisation of Natural History Collection Data" held at Kolkatta, India during 15-16 June 2011.

  9. f

    Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism...

    • plos.figshare.com
    tiff
    Updated Jun 1, 2023
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    Sergio I. Nemirovsky; Marta Córdoba; Jonathan J. Zaiat; Sabrina P. Completa; Patricia A. Vega; Dolores González-Morón; Nancy M. Medina; Mónica Fabbro; Soledad Romero; Bianca Brun; Santiago Revale; María Florencia Ogara; Adali Pecci; Marcelo Marti; Martin Vazquez; Adrián Turjanski; Marcelo A. Kauffman (2023). Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder [Dataset]. http://doi.org/10.1371/journal.pone.0116358
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    tiffAvailable download formats
    Dataset updated
    Jun 1, 2023
    Dataset provided by
    PLOS ONE
    Authors
    Sergio I. Nemirovsky; Marta Córdoba; Jonathan J. Zaiat; Sabrina P. Completa; Patricia A. Vega; Dolores González-Morón; Nancy M. Medina; Mónica Fabbro; Soledad Romero; Bianca Brun; Santiago Revale; María Florencia Ogara; Adali Pecci; Marcelo Marti; Martin Vazquez; Adrián Turjanski; Marcelo A. Kauffman
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    IntroductionClinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD.MethodsWe identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents.ResultsThree male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon (NM_033517:c.3259_3259delC, p.Ser1088Profs*6).ConclusionsWe reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.

  10. Data sets for 'The origin and evolution of biosynthetic pathway of...

    • figshare.com
    zip
    Updated May 22, 2020
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    Li Xiangchen (2020). Data sets for 'The origin and evolution of biosynthetic pathway of fusidane-type antibiotics through multiple horizontal gene transfers' [Dataset]. http://doi.org/10.6084/m9.figshare.12333218.v2
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    zipAvailable download formats
    Dataset updated
    May 22, 2020
    Dataset provided by
    Figsharehttp://figshare.com/
    Authors
    Li Xiangchen
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Data sets for 'The origin and evolution of biosynthetic pathway of fusidane-type antibiotics through multiple horizontal gene transfers'

  11. Data from: Mitochondrial DNA Sequence Diversity in Mammals: a correlation...

    • figshare.com
    zip
    Updated Oct 1, 2020
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    Jennifer James; Adam Eyre-Walker (2020). Data from: Mitochondrial DNA Sequence Diversity in Mammals: a correlation between the effective and census population sizes [Dataset]. http://doi.org/10.6084/m9.figshare.13035068.v1
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    zipAvailable download formats
    Dataset updated
    Oct 1, 2020
    Dataset provided by
    Figsharehttp://figshare.com/
    Authors
    Jennifer James; Adam Eyre-Walker
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    All alignment files and datasets used in the manuscript.

  12. n

    Reduced representation sequencing to understand the evolutionary history of...

    • data.niaid.nih.gov
    • datadryad.org
    zip
    Updated Sep 9, 2022
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    Lionel Di Santo; Sean Hoban; Thomas Parchman; Jessica Wright; Jill Hamilton (2022). Reduced representation sequencing to understand the evolutionary history of Torrey pine (Pinus torreyana Parry) with implications for rare species conservation [Dataset]. http://doi.org/10.5061/dryad.83bk3j9v0
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    zipAvailable download formats
    Dataset updated
    Sep 9, 2022
    Dataset provided by
    University of Nevada, Reno
    Morton Arboretum
    US Forest Service
    North Dakota State University
    Authors
    Lionel Di Santo; Sean Hoban; Thomas Parchman; Jessica Wright; Jill Hamilton
    License

    https://spdx.org/licenses/CC0-1.0.htmlhttps://spdx.org/licenses/CC0-1.0.html

    Description

    Understanding the contribution of neutral and adaptive evolutionary processes to population differences is often necessary for better-informed management and conservation of rare species. In this study, we focused on Pinus torreyana Parry (Torrey pine), one of the world’s rarest pines, endemic to one island and one mainland population in California. Small population size, low genetic diversity, and susceptibility to abiotic and biotic stresses suggest Torrey pine may benefit from inter-population genetic rescue to preserve the species’ evolutionary potential. We leveraged reduced representation sequencing to tease apart the respective contributions of stochastic and deterministic evolutionary processes to population differentiation. We applied these data to model spatial and temporal demographic changes in effective population sizes and genetic connectivity, to assess loci possibly under selection, and to evaluate genetic rescue as a potential conservation strategy. Overall, we observed exceedingly low standing variation reflecting consistently low effective population sizes across time and limited genetic differentiation suggesting maintenance of gene flow following divergence. However, genome scans identified more than 2000 candidate SNPs for divergent selection. Combined with previous observations indicating population phenotypic differentiation, this indicates natural selection has likely contributed to the evolution of population genetic differences. Thus, while reduced genetic diversity, small effective population size, and genetic connectivity between populations suggest genetic rescue could mitigate the adverse effects of rarity, divergent selection suggests genetic mixing could disrupt adaptation. Further work evaluating the fitness consequences of inter-population admixture is necessary to empirically evaluate the trade-offs associated with genetic rescue in Torrey pine. Methods All genetic data sets within this repository represent either do novo assembly or range-wide single-nucleotide polymorphisms (SNPs) obtained using the dDocent pipeline (Puritz et al. 2014a; Puritz et al. 2014b) for the critically endangered Torrey pine (Pinus torreyana Parry). Filtering of data sets was either performed using VCFtools (Danecek et al. 2011) or customized R scripts (available upon request to the corresponding author). For details on how these datasets were generated, refer to the Materials and Methods section in the published manuscript. References: Puritz, J. B., Hollenbeck, C. M., & Gold, J. R. (2014a). dDocent: a RADseq, variant-calling pipeline designed for population genomics of non-model organisms. PeerJ, 2, e431. doi:10.7717/peerj.431 Puritz, J. B., Matz, M. V, Toonen, R. J., Weber, J. N., Bolnick, D. I., & Bird, C. E. (2014b). Demystifying the RAD fad. Molecular Ecology, 23(24), 5937–5942. doi: 10.1111/mec.12965 Danecek, P., Auton, A., Abecasis, G., Albers, C. A., Banks, E., DePristo, M. A., … Group, 1000 Genomes Project Analysis. (2011). The variant call format and VCFtools. Bioinformatics, 27(15), 2156–2158. doi: 10.1093/bioinformatics/btr330

  13. f

    PERM application history

    • froghire.ai
    Updated Apr 3, 2025
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    FrogHire.ai (2025). PERM application history [Dataset]. https://www.froghire.ai/major/Bioinformatics%2C%20Structural%20Biochemistry%20And%20Genomics
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    Dataset updated
    Apr 3, 2025
    Dataset provided by
    FrogHire.ai
    Description

    This linear chart displays the number of PERM cases filed for graduates in Bioinformatics, Structural Biochemistry And Genomics from 2020 to 2023, highlighting the trends and changes in sponsorship over the years. It provides a deep dive into how graduates in this specific major have engaged with potential employers for permanent residency in the U.S., illustrating the major’s effectiveness in connecting students with career opportunities that lead to permanent residency

  14. d

    Genomic data reveal the biogeographic and demographic history of Ammospiza...

    • datadryad.org
    • data.niaid.nih.gov
    • +1more
    zip
    Updated Jun 2, 2022
    + more versions
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    Jennifer Walsh; Adrienne Kovach; Phred Benham; Gemma Clucas; Virginia Winder; Irby Lovette (2022). Genomic data reveal the biogeographic and demographic history of Ammospiza sparrows in northeast tidal marshes [Dataset]. http://doi.org/10.5061/dryad.73n5tb2x6
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    zipAvailable download formats
    Dataset updated
    Jun 2, 2022
    Dataset provided by
    Dryad
    Authors
    Jennifer Walsh; Adrienne Kovach; Phred Benham; Gemma Clucas; Virginia Winder; Irby Lovette
    Time period covered
    2021
    Description

    Aim: Shaped by both climate change and sea-level rise, tidal salt marshes represent ephemeral systems that are home to only a few, highly specialized species. The dynamic ecological histories and spatial complexities of these habitats, however, render it challenging to reconstruct the complete biogeographic histories of their endemic taxa. Here, we leverage three species of North American Ammospiza sparrows that inhabit tidal marshes ( Ammospiza caudacuta, A. maritima, and A. n. subvirgatus) and closely related freshwater species to demonstrate the utility of whole-genome data in resolving demographic and evolutionary history as it relates to divergence and dispersal events in ephemeral ecosystems. We employ a combination of demographic and biogeographic reconstructions to shed new light on the colonization history of freshwater-saline environments in this system.

    Location: North America

    Taxon: Ammospiza Sparrows

    Methods: We sequenced whole genomes from Ammospiza sparrows to address...

  15. o

    Data for for Detecting cell-of-origin and cancer-specific methylation...

    • explore.openaire.eu
    • data.niaid.nih.gov
    • +1more
    Updated Apr 11, 2022
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    Efrat Katsman; Shari Orlanski; Filippo Martignano; Silvestro G Conticello; Benjamin P Berman (2022). Data for for Detecting cell-of-origin and cancer-specific methylation features of cell-free DNA from Nanopore sequencing [Dataset]. http://doi.org/10.5281/zenodo.6448475
    Explore at:
    Dataset updated
    Apr 11, 2022
    Authors
    Efrat Katsman; Shari Orlanski; Filippo Martignano; Silvestro G Conticello; Benjamin P Berman
    Description

    This is an updated version of the earlier dataset. We removed the directory "SegmentationResultsMartignano2021". This data was incorrect, and the correct version is now moved to the source code tree at: 10.5281/zenodo.6641763. We also added a new set of files called doubleBarcodeIds, which contains IDs of all reads with two barcodes (see Methods). Datasets accompanying the paper https://doi.org/10.1101/2021.10.18.464684

  16. f

    PERM application history

    • froghire.ai
    Updated Apr 6, 2025
    + more versions
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    FrogHire.ai (2025). PERM application history [Dataset]. https://www.froghire.ai/major/College%20Of%20Engineering%20And%20Computing%20Medical%20And%20Bioinformatics
    Explore at:
    Dataset updated
    Apr 6, 2025
    Dataset provided by
    FrogHire.ai
    Description

    This linear chart displays the number of PERM cases filed for graduates in College Of Engineering And Computing Medical And Bioinformatics from 2020 to 2023, highlighting the trends and changes in sponsorship over the years. It provides a deep dive into how graduates in this specific major have engaged with potential employers for permanent residency in the U.S., illustrating the major’s effectiveness in connecting students with career opportunities that lead to permanent residency

  17. f

    DataSheet1_Association between missense variants of uncertain significance...

    • frontiersin.figshare.com
    pdf
    Updated Feb 27, 2024
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    Natalia Alonso; Sebastián Menao; Rodrigo Lastra; María Arruebo; María P. Bueso; Esther Pérez; M. Laura Murillo; María Álvarez; Alba Alonso; Soraya Rebollar; Mara Cruellas; Dolores Arribas; Mónica Ramos; Dolores Isla; Juan José Galano-Frutos; Helena García-Cebollada; Javier Sancho; Raquel Andrés (2024). DataSheet1_Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.PDF [Dataset]. http://doi.org/10.3389/fgene.2023.1274108.s001
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    pdfAvailable download formats
    Dataset updated
    Feb 27, 2024
    Dataset provided by
    Frontiers
    Authors
    Natalia Alonso; Sebastián Menao; Rodrigo Lastra; María Arruebo; María P. Bueso; Esther Pérez; M. Laura Murillo; María Álvarez; Alba Alonso; Soraya Rebollar; Mara Cruellas; Dolores Arribas; Mónica Ramos; Dolores Isla; Juan José Galano-Frutos; Helena García-Cebollada; Javier Sancho; Raquel Andrés
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Inherited mutations in the CHEK2 gene have been associated with an increased lifetime risk of developing breast cancer (BC). We aim to identify in the study population the prevalence of mutations in the CHEK2 gene in diagnosed BC patients, evaluate the phenotypic characteristics of the tumor and family history, and predict the deleteriousness of the variants of uncertain significance (VUS). A genetic study was performed, from May 2016 to April 2020, in 396 patients diagnosed with BC at the University Hospital Lozano Blesa of Zaragoza, Spain. Patients with a genetic variant in the CHEK2 gene were selected for the study. We performed a descriptive analysis of the clinical variables, a bibliographic review of the variants, and a cosegregation study when possible. Moreover, an in-depth bioinformatics analysis of CHEK2 VUS was carried out. We identified nine genetic variants in the CHEK2 gene in 10 patients (two pathogenic variants and seven VUS). This supposes a prevalence of 0.75% and 1.77%, respectively. In all cases, there was a family history of BC in first- and/or second-degree relatives. We carried out a cosegregation study in two families, being positive in one of them. The bioinformatics analyses predicted the pathogenicity of six of the VUS. In conclusion, CHEK2 mutations have been associated with an increased risk for BC. This risk is well-established for foundation variants. However, the risk assessment for other variants is unclear. The incorporation of bioinformatics analysis provided supporting evidence of the pathogenicity of VUS.

  18. Biome-bioinformatics (Company) - Reverse Whois Lookup

    • whoisdatacenter.com
    csv
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    AllHeart Web Inc, Biome-bioinformatics (Company) - Reverse Whois Lookup [Dataset]. https://whoisdatacenter.com/company/Biome-bioinformatics/
    Explore at:
    csvAvailable download formats
    Dataset provided by
    AllHeart Web
    Authors
    AllHeart Web Inc
    License

    https://whoisdatacenter.com/terms-of-use/https://whoisdatacenter.com/terms-of-use/

    Time period covered
    Mar 15, 1985 - Jun 9, 2025
    Description

    Uncover historical ownership history and changes over time by performing a reverse Whois lookup for the company Biome-bioinformatics.

  19. f

    Supplemental Material for Demirci et al., 2020

    • gsajournals.figshare.com
    zip
    Updated Dec 1, 2020
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    Sevgin Demirci; Roven Rommel Fuentes; Willem van Dooijeweert; Saulo Aflitos; Elio Schijlen; Thamara Hesselink; Dick de Ridder; Aalt D.J. van Dijk; Sander Peters (2020). Supplemental Material for Demirci et al., 2020 [Dataset]. http://doi.org/10.25387/g3.13312088.v1
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    zipAvailable download formats
    Dataset updated
    Dec 1, 2020
    Dataset provided by
    GSA Journals
    Authors
    Sevgin Demirci; Roven Rommel Fuentes; Willem van Dooijeweert; Saulo Aflitos; Elio Schijlen; Thamara Hesselink; Dick de Ridder; Aalt D.J. van Dijk; Sander Peters
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    Figure S1 contains allele frequency counts for duplications, inversions and deletions. Figure S2 contains clustering of the duplications and melon accessions based on presence/absence of duplications. Figures S3-S5 contain maximum likelihood trees based on duplications, inversions and deletions, respectively. Figure S6 contains a maximum likelihood tree with bootstrap values based on combined SV events. Table S1 contains the details of accessions used in this study including country of origin, accession number, common name and groups and subspecies they belong to. Table S2 contains the presence/absence variation (PAV) of 104 genes in linkage group V in 100 melon accessions. Table S3 contains the overrepresented GO terms in genes overlapping with SV.

  20. Demand-driven Strategies and Action Plan for Data Publishing: Why and How?

    • figshare.com
    application/cdfv2
    Updated Jan 18, 2016
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    Vishwas Chavan (2016). Demand-driven Strategies and Action Plan for Data Publishing: Why and How? [Dataset]. http://doi.org/10.6084/m9.figshare.828567.v1
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    application/cdfv2Available download formats
    Dataset updated
    Jan 18, 2016
    Dataset provided by
    figshare
    Figsharehttp://figshare.com/
    Authors
    Vishwas Chavan
    License

    Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
    License information was derived automatically

    Description

    This presentation was given at the "Regional Workshop on Strategies for Digitization and Mobilisation of Natural History Collection Data" held at Kolkatta, India during 15-16 June 2011.

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Colbie Reed (2023). Data Object 1-1 (Supplemental Data 1-S1) [Dataset]. http://doi.org/10.6084/m9.figshare.24548935.v1
Organization logoOrganization logo

Data Object 1-1 (Supplemental Data 1-S1)

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xlsxAvailable download formats
Dataset updated
Nov 12, 2023
Dataset provided by
figshare
Figsharehttp://figshare.com/
Authors
Colbie Reed
License

Attribution 4.0 (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/
License information was derived automatically

Description

Supplemental Data 1-S1. Timeline of important events shaping contemporary bioinformatics and comparative genomics. Timeline is not intended to be absolutely comprehensive of each of the observed fields, their respective histories. See footnotes for key review publications, sources in addition to those listed in Reference column. Field of contributions are color-coded accordingly: purple= computer science/engineering, blue= legislation/government action, biology= green, economic/markets= orange, academic institution= pink

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