WORKSHOP: Variant calling in humans, animals and plants with Galaxy
This record includes training materials associated with the Australian BioCommons workshop ‘Variant calling in humans, animals and plants with Galaxy’. This workshop took place on 25 May 2021.
Variant calling in polyploid organisms, including humans, plants and animals, can help determine single...
Keywords: Variant calling, Genetic Variation Analysis, SNP annotation
WORKSHOP: Variant calling in humans, animals and plants with Galaxy
https://zenodo.org/records/5076668
https://dresa.org.au/materials/workshop-variant-calling-in-humans-animals-and-plants-with-galaxy-767f1816-1c06-478c-adf4-90b3b2d32a9c
This record includes training materials associated with the Australian BioCommons workshop ‘Variant calling in humans, animals and plants with Galaxy’. This workshop took place on 25 May 2021.
Variant calling in polyploid organisms, including humans, plants and animals, can help determine single or multi-variant contributors to a phenotype. Further, sexual reproduction (as compared to asexual) combines variants in a novel manner; this can be used to determine previously unknown variant - phenotype combinations but also to track lineage and lineage associated traits (GWAS studies), that all rely on highly accurate variant calling. The ability to confidently call variants in polyploid organisms is highly dependent on the balance between the frequency of variant observations against the background of non-variant observations, and even further compounded when one considers multi-variant positions within the genome. These are some of the challenges that will be explored in the workshop.
In this online workshop we focused on the tools and workflows available for variant calling in polyploid organisms in Galaxy Australia. The workshop provided opportunities for hands-on experience using Freebayes for variant calling and SnpEff and GEMINI for variant annotation. The workshop made use of data from a case study on diagnosing a genetic disease however the tools and workflows are equally applicable to other polyploid organisms and biological questions.
Access to all of the tools covered in this workshop was via Galaxy Australia, an online platform for biological research that allows people to use computational data analysis tools and workflows without the need for programming experience.
The materials are shared under a Creative Commons 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
Schedule (PDF): schedule for the workshop
Variant calling - humans, animals, plants - slides (PPTX and PDF): slides used in the workshop
Materials shared elsewhere:
The tutorial used in this workshop is available via the Galaxy Training Network.
Wolfgang Maier, Bérénice Batut, Torsten Houwaart, Anika Erxleben, Björn Grüning, 2021 Exome sequencing data analysis for diagnosing a genetic disease (Galaxy Training Materials). https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/exome-seq/tutorial.html Online; accessed 25 May 2021
Melissa Burke (melissa@biocommons.org.au)
Price, Gareth (orcid: 0000-0003-2439-8650)
Variant calling, Genetic Variation Analysis, SNP annotation
WORKSHOP: Make your bioinformatics workflows findable and citable
This record includes training materials associated with the Australian BioCommons workshop ‘Make your bioinformatics workflows findable and citable’. This workshop took place on 21 March 2023.
Event description
Computational workflows are invaluable resources for research communities. They help...
Keywords: Bioinformatics, Workflows, WorkflowHub, FAIR, Open Science
WORKSHOP: Make your bioinformatics workflows findable and citable
https://zenodo.org/records/7787488
https://dresa.org.au/materials/workshop-make-your-bioinformatics-workflows-findable-and-citable-74e85d1c-d869-429e-b942-8391f4bab23d
This record includes training materials associated with the Australian BioCommons workshop ‘Make your bioinformatics workflows findable and citable’. This workshop took place on 21 March 2023.
Event description
Computational workflows are invaluable resources for research communities. They help us standardise common analyses, collaborate with other researchers, and support reproducibility. Bioinformatics workflow developers invest significant time and expertise to create, share, and maintain these resources for the benefit of the wider community and being able to easily find and access workflows is an essential factor in their uptake by the community.
Increasingly, the research community is turning to workflow registries to find and access public workflows that can be applied to their research. Workflow registries support workflow findability and citation by providing a central repository and allowing users to search for and discover them easily.
This workshop will introduce you to workflow registries and support attendees to register their workflows on the popular workflow registry, WorkflowHub. We’ll kick off the workshop with an introduction to the concepts underlying workflow findability, how it can benefit workflow developers, and how you can make the most of workflow registries to share your computational workflows with the research community. You will then have the opportunity to register your own workflows in WorkflowHub with support from our trainers.
Materials are shared under a Creative Commons Attribution 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
2023-03-21_Workflows_slides (PDF): A copy of the slides presented during the workshop
Materials shared elsewhere:
A recording of the first part of this workshop is available on the Australian BioCommons YouTube Channel: https://youtu.be/2kGKxaPuQN8
Melissa Burke (melissa@biocommons.org.au)
Gustafsson, Johan (orcid: 0000-0002-2977-5032)
Samaha, Georgina (orcid: 0000-0003-0419-1476)
Bioinformatics, Workflows, WorkflowHub, FAIR, Open Science
WEBINAR: Variant interpretation: from the clinic to the lab… and back again
This record collates training materials associated with the Australian BioCommons/Melbourne Genomics webinar ‘Variant interpretation: from the clinic to the lab… and back again’. This webinar took place on 7 December 2022.
Event description
The use of genomic testing is increasing rapidly as...
Keywords: Clinical genomics, Variant interpretation, Variant curation, Continuing Professional Development, Professional Development, Bioinformatics, Genomics, Variant calling
WEBINAR: Variant interpretation: from the clinic to the lab… and back again
https://zenodo.org/records/7425920
https://dresa.org.au/materials/webinar-variant-interpretation-from-the-clinic-to-the-lab-and-back-again-5c6aed91-24cd-4314-9638-5e60d51e1af1
This record collates training materials associated with the Australian BioCommons/Melbourne Genomics webinar ‘Variant interpretation: from the clinic to the lab… and back again’. This webinar took place on 7 December 2022.
Event description
The use of genomic testing is increasing rapidly as the cost of genome sequencing decreases. Many areas of the health workforce are upskilling in genomics to help meet the increased demand. From clinicians learning how to use the right test, for the right patient, at the right time, to medical scientists learning how to interpret and classify variants, and data scientists to learning how to better create and continuously refine the pipelines and software to handle and curate big data.
In this webinar, we’ll hear from two people working at the coalface of variant interpretation – one in a diagnostic laboratory and the other in a cancer research laboratory.
Naomi Baker is Medical Scientist at Victorian Clinical Genetics Services. She helps process hundreds of genomic tests per year to find the variants that cause rare diseases. She’ll explain the clinical variant interpretation processes she uses, the pipelines, professions and people involved.
Joep Vissers is a Curation Team Leader, at the University of Melbourne Centre for Cancer Research, Department of Clinical Pathology. Joep, who also teaches cancer biology at the University, will describe how he uses variant interpretation in his work at the research/clinical interface, and the shift in mindset required when working with data for these different purposes.
Amy Nisselle, Genomics Workforce Lead at Melbourne Genomics, will then briefly outline some of the education programs available in clinical variant interpretation.
This webinar is co-presented by Australian BioCommons and Melbourne Genomics
Materials are shared under a Creative Commons Attribution 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
Variant interpretation from the clinic to the lab and back again.pdf: A PDF copy of the slides presented during the webinar.
Materials shared elsewhere:
A recording of this webinar is available on the Australian BioCommons YouTube Channel:
https://youtu.be/wLMhwIiK8Lw
Melissa Burke (melissa@biocommons.org.au)
Baker, Naomi
Vissers, Joep (orcid: 0000-0003-0435-6824)
Nisselle, Amy (orcid: 0000-0002-8908-5906)
Clinical genomics, Variant interpretation, Variant curation, Continuing Professional Development, Professional Development, Bioinformatics, Genomics, Variant calling
WEBINAR: Here's one we prepared earlier: (re)creating bioinformatics methods and workflows with Galaxy Australia
This record includes training materials associated with the Australian BioCommons webinar ‘Here’s one we prepared earlier: (re)creating bioinformatics methods and workflows with Galaxy Australia’. This webinar took place on 26 October 2022.
Event description
Have you discovered a brilliant...
Keywords: Bioinformatics, Workflows, FAIR, Galaxy Australia
WEBINAR: Here's one we prepared earlier: (re)creating bioinformatics methods and workflows with Galaxy Australia
https://zenodo.org/records/7251310
https://dresa.org.au/materials/webinar-here-s-one-we-prepared-earlier-re-creating-bioinformatics-methods-and-workflows-with-galaxy-australia-134a8bf5-3801-421f-a454-e0f9020f4871
This record includes training materials associated with the Australian BioCommons webinar ‘Here’s one we prepared earlier: (re)creating bioinformatics methods and workflows with Galaxy Australia’. This webinar took place on 26 October 2022.
Event description
Have you discovered a brilliant bioinformatics workflow but you’re not quite sure how to use it? In this webinar we will introduce the power of Galaxy for construction and (re)use of reproducible workflows, whether building workflows from scratch, recreating them from published descriptions and/or extracting from Galaxy histories.
Using an established bioinformatics method, we’ll show you how to:
Use the workflows creator in Galaxy Australia
Build a workflow based on a published method
Annotate workflows so that you (and others) can understand them
Make workflows finable and citable (important and very easy to do!)
Materials are shared under a Creative Commons Attribution 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
GalaxyWorkflows_Slides (PDF): A PDF copy of the slides presented during the webinar.
Materials shared elsewhere:
A recording of this webinar is available on the Australian BioCommons YouTube Channel:
https://youtu.be/IMkl6p7hkho
Melissa Burke (melissa@biocommons.org.au)
Price, Gareth (orcid: 0000-0003-2439-8650)
Gustafsson, Johan (orcid: 0000-0002-2977-5032)
Bioinformatics, Workflows, FAIR, Galaxy Australia
WEBINAR: Getting started with whole genome mapping and variant calling on the command line
This record includes training materials associated with the Australian BioCommons webinar ‘Getting started with whole genome mapping and variant calling on the command line’. This webinar took place on 24 August 2022.
Event description
Life scientists are increasingly using whole genome...
Keywords: Genome mapping, Variant calling, Bioinformatics, Workflows
WEBINAR: Getting started with whole genome mapping and variant calling on the command line
https://zenodo.org/records/7024058
https://dresa.org.au/materials/webinar-getting-started-with-whole-genome-mapping-and-variant-calling-on-the-command-line-2046f36b-0c7a-4523-9c21-08046900d3ff
This record includes training materials associated with the Australian BioCommons webinar ‘Getting started with whole genome mapping and variant calling on the command line’. This webinar took place on 24 August 2022.
Event description
Life scientists are increasingly using whole genome sequencing (WGS) to ask and answer research questions across the tree of life. Before any of this work can be done, there is the essential but challenging task of processing raw sequencing data. Processing WGS data is a computationally challenging, multi-step process used to create a map of an individual’s genome and identify genetic variant sites. The tools you use in this process and overall workflow design can look very different for different researchers, it all depends on your dataset and the research questions you’re asking. Luckily, there are lots of existing WGS processing tools and pipelines out there, but knowing where to start and what your specific needs are is hard work, no matter how experienced you are.
In this webinar we will walk through the essential steps and considerations for researchers who are running and building reproducible WGS mapping and variant calling pipelines at the command line interface. We will discuss how to choose and evaluate a pipeline that is right for your dataset and research questions, and how to get access to the compute resources you need
Materials are shared under a Creative Commons Attribution 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
WGS mapping and variant calling _slides (PDF): A PDF copy of the slides presented during the webinar.
Materials shared elsewhere:
A recording of this webinar is available on the Australian BioCommons YouTube Channel:
https://youtu.be/Q2EceFyizio
Melissa Burke (melissa@biocommons.org.au)
Samaha, Georgina (orcid: 0000-0003-0419-1476)
Genome mapping, Variant calling, Bioinformatics, Workflows
WEBINAR: bio.tools - making it easier to find, understand and cite biological tools and software
This record includes training materials associated with the Australian BioCommons webinar ‘bio.tools - making it easier to find, understand and cite biological tools and software’. This webinar took place on 21 June 2022.
Event description
bio.tools provides easy access to essential scientific...
Keywords: Bioinformatics, Research software, EDAM, Workflows, FAIR
WEBINAR: bio.tools - making it easier to find, understand and cite biological tools and software
https://zenodo.org/records/7024050
https://dresa.org.au/materials/webinar-bio-tools-making-it-easier-to-find-understand-and-cite-biological-tools-and-software-aea38c9e-0b40-4308-bafd-f7580563f520
This record includes training materials associated with the Australian BioCommons webinar ‘bio.tools - making it easier to find, understand and cite biological tools and software’. This webinar took place on 21 June 2022.
Event description
bio.tools provides easy access to essential scientific and technical information about software, command-line tools, databases and services. It’s backed by ELIXIR, the European Infrastructure for Biological Information, and is being used in Australia to register software (e.g. Galaxy Australia, prokka). It underpins the information provided in the Australian BioCommons discovery service ToolFinder.
Hans Ienasescu and Matúš Kalaš join us to explain how bio.tools uses a community driven, open science model to create this collection of resources and how it makes it easier to find, understand, utilise and cite them. They’ll delve into how bio.tools is using standard semantics (e.g. the EDAM ontology) and syntax (e.g. biotoolsSchema) to enrich the annotation and description of tools and resources. Finally, we’ll see how the community can contribute to bio.tools and take advantage of its key features to share and promote their own research software.
Materials are shared under a Creative Commons Attribution 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
biotools_EDAM_slides (PDF): A PDF copy of the slides presented during the webinar.
Materials shared elsewhere:
A recording of this webinar is available on the Australian BioCommons YouTube Channel:
https://youtu.be/K0J4_bAUG3Y
Melissa Burke (melissa@biocommons.org.au)
Ienasescu, Hans
Kalaš, Matúš (orcid: 0000-0002-1509-4981)
Bioinformatics, Research software, EDAM, Workflows, FAIR
Research Data Governance
This video contains key information for those who make research data-related decisions. It will help project leaders to start investigating ways to develop their own data governance policy, roles and responsibilities and procedures with the input of appropriate stakeholders.
If you want to share...
Keywords: data governance, data, research, FAIR, data management, authority, share, reuse, access, provenance, policy, responsibilities, ARDC_AU, training material
Research Data Governance
https://zenodo.org/records/5044585
https://dresa.org.au/materials/research-data-governance-6ad9ab90-1a29-41db-b4aa-f1988501530d
This video contains key information for those who make research data-related decisions. It will help project leaders to start investigating ways to develop their own data governance policy, roles and responsibilities and procedures with the input of appropriate stakeholders.
If you want to share the video please use this:
Australian Research Data Commons, 2021. Research Data Governance. [video] Available at: https://youtu.be/K_xVQRdgCIc DOI: http://doi.org/10.5281/zenodo.5044585 [Accessed dd Month YYYY].
contact@ardc.edu.au
Australian Research Data Commons
Martinez, Paula Andrea (type: ProjectLeader)
Wilkinson, Max (type: Editor)
Callaghan,Shannon (type: Editor)
Savill, Jo (type: Editor)
Kang, Kristan (type: Editor)
Levett, Kerry (type: Editor)
Russell, Keith (type: Editor)
Simons, Natasha (type: Editor)
data governance, data, research, FAIR, data management, authority, share, reuse, access, provenance, policy, responsibilities, ARDC_AU, training material
ARDC Skills Landscape
The Australian Research Data Commons is driving transformational change in the research data ecosystem, enabling researchers to conduct world class data-intensive research. One interconnected component of this ecosystem is skills development/uplift, which is critical to the Commons and its...
Keywords: skills, data skills, eresearch skills, community, skilled workforce, FAIR, research data management, data stewardship, data governance, data use, data generation, training material
ARDC Skills Landscape
https://zenodo.org/records/4287743
https://dresa.org.au/materials/ardc-skills-landscape-56b224ca-9e30-4771-8615-d028c7be86a6
The Australian Research Data Commons is driving transformational change in the research data ecosystem, enabling researchers to conduct world class data-intensive research. One interconnected component of this ecosystem is skills development/uplift, which is critical to the Commons and its purpose of providing Australian researchers with a competitive advantage through data.
In this presentation, Kathryn Unsworth introduces the ARDC Skills Landscape. The Landscape is a first step in developing a national skills framework to enable a coordinated and cohesive approach to skills development across the Australian eResearch sector. It is also a first step towards helping to analyse current approaches in data training to identify:
- Siloed skills initiatives, and finding ways to build partnerships and improve collaboration
- Skills deficits, and working to address the gaps in data skills
- Areas of skills development for investment by skills stakeholders like universities, research organisations, skills and training service providers, ARDC, etc.
contact@ardc.edu.au
Unsworth, Kathryn (orcid: 0000-0002-5407-9987)
skills, data skills, eresearch skills, community, skilled workforce, FAIR, research data management, data stewardship, data governance, data use, data generation, training material
ARDC Your first step to FAIR
This workshop gives a brief overview of the FAIR principles, including a method to make a one-file dataset FAIR.
Keywords: training material, FAIR, data, workshop
ARDC Your first step to FAIR
https://zenodo.org/records/5009206
https://dresa.org.au/materials/ardc-your-first-step-to-fair-1ee3dc3c-23b0-4287-b96c-c120c5697932
This workshop gives a brief overview of the FAIR principles, including a method to make a one-file dataset FAIR.
contact@ardc.edu.au
Matthias Liffers (orcid: 0000-0002-3639-2080)
Stokes, Liz (type: Editor)
Martinez, Paula Andrea (type: Editor)
Russell, Keith (type: Editor)
training material, FAIR, data, workshop
ARDC Training Materials Metadata Checklist v1.1
The ARDC Training Materials Metadata Checklist aims to support learning designers, training materials creators, trainers and national training infrastructure providers to capture key information and apply appropriate mechanisms to enable sharing and reuse of their training materials
Keywords: checklist, Training material, FAIR, standard, requirements, metadata
ARDC Training Materials Metadata Checklist v1.1
https://zenodo.org/records/5276003
https://dresa.org.au/materials/ardc-training-materials-metadata-checklist-v1-1
The ARDC Training Materials Metadata Checklist aims to support learning designers, training materials creators, trainers and national training infrastructure providers to capture key information and apply appropriate mechanisms to enable sharing and reuse of their training materials
contact@ardc.edu.au
Martinez, Paula Andrea (orcid: 0000-0002-8990-1985)
Unsworth, Kathryn (orcid: 0000-0002-5407-9987)
checklist, Training material, FAIR, standard, requirements, metadata
Locking the front door without leaving the windows open: positioning authentication technologies within the "Five Safes" framework for effective use of sensitive research data
This project explores the options for access to sensitive data sets; what authentication technologies (e.g. multi-factor authentication) are needed to access sensitive data and secure compute environments. This project seeks to position choices around authentication technologies within the Five...
Keywords: ARDC, Storage and Compute Summit, FAIR, Infrastructure, NCRIS, eResearch, training material
Locking the front door without leaving the windows open: positioning authentication technologies within the "Five Safes" framework for effective use of sensitive research data
https://zenodo.org/records/3547980
https://dresa.org.au/materials/locking-the-front-door-without-leaving-the-windows-open-positioning-authentication-technologies-within-the-five-safes-framework-for-effective-use-of-sensitive-research-data-b83124f8-2add-41c6-b194-d5dd50d098f6
This project explores the options for access to sensitive data sets; what authentication technologies (e.g. multi-factor authentication) are needed to access sensitive data and secure compute environments. This project seeks to position choices around authentication technologies within the Five Safes framework for research use of sensitive data, proposed in 2003 by Felix Ritchie of the UK Office of National Statistics:
• Safe Projects: is the proposed research use of the data appropriate?
• Safe People: can the users be trusted to use the data in an appropriate manner?
• Safe Settings: does the access facility limit unauthorised use?
• Safe Data: is there a disclosure risk in the data itself?
• Safe Outputs: are the research results non-disclosive i.e. they do not compromise privacy or breach confidentiality?
contact@ardc.edu.au
Churches, Tim
Jorm, Louisa
ARDC, Storage and Compute Summit, FAIR, Infrastructure, NCRIS, eResearch, training material
ARDC FAIR Data 101 self-guided
FAIR Data 101 v3.0 is a self-guided course covering the FAIR Data principles
The FAIR Data 101 virtual course was designed and delivered by the ARDC Skilled Workforce Program twice in 2020 and has now been reworked as a self-guided course.
The course structure was based on 'FAIR Data in the...
Keywords: training material, FAIR data, video, webinar, activities, quiz, FAIR, research data management
ARDC FAIR Data 101 self-guided
https://zenodo.org/records/5094034
https://dresa.org.au/materials/ardc-fair-data-101-self-guided-2d794a84-f0ff-4e11-a39c-fa8ea481e097
FAIR Data 101 v3.0 is a self-guided course covering the FAIR Data principles
The FAIR Data 101 virtual course was designed and delivered by the ARDC Skilled Workforce Program twice in 2020 and has now been reworked as a self-guided course.
The course structure was based on 'FAIR Data in the Scholarly Communications Lifecycle', run by Natasha Simons at the FORCE11 Scholarly Communications Institute. These training materials are hosted on GitHub.
contact@ardc.edu.au
Stokes, Liz (orcid: 0000-0002-2973-5647)
Liffers, Matthias (orcid: 0000-0002-3639-2080)
Burton, Nichola (orcid: 0000-0003-4470-4846)
Martinez, Paula A. (orcid: 0000-0002-8990-1985)
Simons, Natasha (orcid: 0000-0003-0635-1998)
Russell, Keith (orcid: 0000-0001-5390-2719)
McCafferty, Siobhann (orcid: 0000-0002-2491-0995)
Ferrers, Richard (orcid: 0000-0002-2923-9889)
McEachern, Steve (orcid: 0000-0001-7848-4912)
Barlow, Melanie (orcid: 0000-0002-3956-5784)
Brady, Catherine (orcid: 0000-0002-7919-7592)
Brownlee, Rowan (orcid: 0000-0002-1955-1262)
Honeyman, Tom (orcid: 0000-0001-9448-4023)
Quiroga, Maria del Mar (orcid: 0000-0002-8943-2808)
training material, FAIR data, video, webinar, activities, quiz, FAIR, research data management