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2 changes: 1 addition & 1 deletion README.md
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## Website of the Human Copy Number Variation Community

The [website](http://hcnv.github.io) of the _Human Copy Number Variation Community_ (hCNV) is a resource originating in ELIXIR's h-CNV Community Implementation Study (2019-2021).
The [website](https://hcnv.github.io) of the _Human Copy Number Variation Community_ (hCNV) is a resource originating in ELIXIR's h-CNV Community Implementation Study (2019-2021).

2 changes: 1 addition & 1 deletion docs/contacts/Cezard-Timothee.md
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* email: tcezard [at] ebi.ac.uk
* web: [EBI](https://www.ebi.ac.uk/about/people/timothee-cezard)
* ORCID iD: [0000-0002-5626-270X](http://europepmc.org/search?query=AUTHORID:%220000-0002-5626-270X%22&sortby=Date)
* ORCID iD: [0000-0002-5626-270X](https://europepmc.org/search?query=AUTHORID:%220000-0002-5626-270X%22&sortby=Date)
2 changes: 1 addition & 1 deletion docs/contacts/Grüning-Björn.md
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* University of Freiburg
* ELIXIR Galaxy Community
* [www](http://www.bioinf.uni-freiburg.de/team.html)
* [www](https://www.bioinf.uni-freiburg.de/team.html)
2 changes: 1 addition & 1 deletion docs/contacts/Kanitz-Alexander.md
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#### Links

* email: [[email protected]](mailto:[email protected])
* web: [Biozentrum](http://www.biozentrum.unibas.ch/)
* web: [Biozentrum](https://www.biozentrum.unibas.ch/)
2 changes: 1 addition & 1 deletion docs/contacts/Paloots-Rahel.md
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* [Department of Molecular Life Sciences](https://info.baudisgroup.org/group/Rahel_Paloots), University of Zurich
* Swiss Institute of Bioinformatics SIB
* [Progenetix](http://progenetix.org) project
* [Progenetix](https://progenetix.org) project
2 changes: 1 addition & 1 deletion docs/contacts/Yang-Ziying.md
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---

* [Department of Molecular Life Sciences](https://info.baudisgroup.org/group/Ziying_Yang/), University of Zurich
* [Progenetix](http://progenetix.org) project
* [Progenetix](https://progenetix.org) project
2 changes: 1 addition & 1 deletion docs/contacts/Zhao-Hangjia.md
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---

* [Department of Molecular Life Sciences](https://info.baudisgroup.org/group/Hangjia_Zhao/), University of Zurich
* [Progenetix](http://progenetix.org) project
* [Progenetix](https://progenetix.org) project
4 changes: 2 additions & 2 deletions docs/contacts/people.tsv
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University of Bradford 53.7915944357949 -1.7660797296964700 Krzysztof Poterlowicz https://www.bradford.ac.uk/staff/KPoterlowicz1 marker
University of Bradford 53.7915944357949 -1.7660797296964700 Katarzyna Kamieniecka https://elixiruknode.org/team/katarzyna-kamieniecka/ marker
University of Bradford 53.7915944357949 -1.7660797296964700 Khaled Jumah https://www.bradford.ac.uk/staff/kjumah/ marker
University of Freiburg 48.014799717966200 7.83356072785665 Bjoern Gruening http://www.bioinf.uni-freiburg.de/team.html marker
University of Freiburg 48.014799717966200 7.83356072785665 Bjoern Gruening https://www.bioinf.uni-freiburg.de/team.html marker
ELIXIR 52.07799561917700 0.1868099991033470 Katharina Heil https://elixir-europe.org/about-us/who-we-are/hub marker
ELIXIR 52.07799561917700 0.1868099991033470 Giselle Kerry https://elixir-europe.org/about-us/who-we-are/hub marker
Biozentrum Basel 47.5643495531957 7.580929650422590 Alexander Kanitz http://www.biozentrum.unibas.ch/ marker
Biozentrum Basel 47.5643495531957 7.580929650422590 Alexander Kanitz https://www.biozentrum.unibas.ch/ marker
Erasmus MC 51.91101673038920 4.467823983754840 Andrew Stubbs https://www.erasmusmc.nl/en/research/groups/pathology-stubbs marker
Maastricht University 50.84796245891005 5.687935349976222 Friederike Ehrhart https://www.maastrichtuniversity.nl/f-ehrhart marker
University of Leicester 52.62150673759715 -1.1245697272888708 Tim Beck https://le.ac.uk/people/tim-beck marker
4 changes: 2 additions & 2 deletions docs/img/elixir-white-48x36.svg
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4 changes: 2 additions & 2 deletions docs/img/hCNV-Elixir-logo.svg
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4 changes: 2 additions & 2 deletions docs/img/hCNV-logo.svg
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2 changes: 1 addition & 1 deletion docs/index.md
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# ELIXIR Human Copy Number Variation community

<object style="float: right; width: 610px; margin-left: 15px; margin-bottom-10px; overflow: hidden" id="map" width="100%" height="500px" standby="loading data, please wait..." data="https://progenetix.org/services/geolocations?plotType=map&plotPars=map_w_px=600::map_h_px=480::marker_type=marker&inputfile=https://raw.githubusercontent.com/hcnv/hcnv.github.io/main/docs/contacts/people.tsv"></object>Among the different types of inherited and acquired genomic variants, regional genomic copy number variations (CNV) contribute - if measured by affected genomic sequences - contribute by far the largest amount of genomic changes, contributing both to many syndromic diseases as well as the vast majority of human cancers. The [website](http://hcnv.github.io) of the _Human Copy Number Variation Community_
<object style="float: right; width: 610px; margin-left: 15px; margin-bottom-10px; overflow: hidden" id="map" width="100%" height="500px" standby="loading data, please wait..." data="https://progenetix.org/services/geolocations?plotType=map&plotPars=map_w_px=600::map_h_px=480::marker_type=marker&inputfile=https://raw.githubusercontent.com/hcnv/hcnv.github.io/main/docs/contacts/people.tsv"></object>Among the different types of inherited and acquired genomic variants, regional genomic copy number variations (CNV) contribute - if measured by affected genomic sequences - contribute by far the largest amount of genomic changes, contributing both to many syndromic diseases as well as the vast majority of human cancers. The [website](https://hcnv.github.io) of the _Human Copy Number Variation Community_
(hCNV) is a resource originated in ELIXIR's h-CNV Community Implementation Study
(2019-2021) with the aim to provide a resource hub and knowledge exchange space for scientists and practitioners working with - or being interested in - genomic copy number variations in health and diseases. However, the scope of the community extends beyond CNVs and includes definition of and work with other types of genomic variations with a focus on structural variants.

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6 changes: 3 additions & 3 deletions docs/news/2021-06-30-publication-Progenetix-2021.md
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* PMCID: PMC8285936.
* bioRxiv. doi: https://doi.org/10.1101/2021.02.15.428237

![DATABASE logo](http://info.baudisgroup.org/img/logo-database-journal-300x150.png){: style="float: right; width: 150px; margin-top: -150px;"}This article provides an overview of recent changes and additions to the Progenetix database and the services provided through the resource.
![DATABASE logo](https://info.baudisgroup.org/img/logo-database-journal-300x150.png){: style="float: right; width: 150px; margin-top: -150px;"}This article provides an overview of recent changes and additions to the Progenetix database and the services provided through the resource.

<!--more-->

#### Abstract

In cancer, copy number aberrations (CNAs) represent a type of nearly ubiquitous and frequently extensive structural genome variations. To disentangle the molecular mechanisms underlying tumorigenesis as well as identify and characterize molecular subtypes, the comparative and meta-analysis of large genomic variant collections can be of immense importance. Over the last decades, cancer genomic profiling projects have resulted in a large amount of somatic genome variation profiles, however segregated in a multitude of individual studies and datasets. The Progenetix project, initiated in 2001, curates individual cancer CNA profiles and associated metadata from published oncogenomic studies and data repositories with the aim to empower integrative analyses spanning all different cancer biologies. During the last few years, the fields of genomics and cancer research have seen significant advancement in terms of molecular genetics technology, disease concepts, data standard harmonization as well as data availability, in an increasingly structured and systematic manner. For the Progenetix resource, continuous data integration, curation and maintenance have resulted in the most comprehensive representation of cancer genome CNA profiling data with 138 663 (including 115 357 tumor) copy number variation (CNV) profiles. In this article, we report a 4.5-fold increase in sample number since 2013, improvements in data quality, ontology representation with a CNV landscape summary over 51 distinctive National Cancer Institute Thesaurus cancer terms as well as updates in database schemas, and data access including new web front-end and programmatic data access.

Database URL: <http://progenetix.org>
Database URL: <https://progenetix.org>

#### Notes

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* article at [OUP DATABASE](https://academic.oup.com/database/article/doi/10.1093/database/baab043/6323245)
* article at [biorXiv](https://www.biorxiv.org/content/10.1101/2021.02.15.428237v)
* article [PDF](http://info.baudisgroup.org/pdf/2021-06-30___Huang-et-al.__The-Progenetix-oncogenomic-resource-in-2021__DATABASE.pdf)
* article [PDF](https://info.baudisgroup.org/pdf/2021-06-30___Huang-et-al.__The-Progenetix-oncogenomic-resource-in-2021__DATABASE.pdf)
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# - toc
---

The homepage of the hCNV community has now been mapped to the [**cnvar.org**](http://cnvar.org)
The homepage of the hCNV community has now been mapped to the [**cnvar.org**](https://cnvar.org)
domain.

<!--more-->

Since the site is still hosted as a [Github Pages](https://pages.github.com) project
the old [hcnv.github.io](http://hcnv.github.io) still works.
the old [hcnv.github.io](https://hcnv.github.io) still works.

The domain is managed by [Michael Baudis](https://info.baudisgroup.org/group/Michael_Baudis/).
Please let him now about e.g. ideas for subdomains/targets; for example we currently map
the [progenetix.cnvar.org](http://progenetix.cnvar.org) to the Progenetix resource.
the [progenetix.cnvar.org](https://progenetix.cnvar.org) to the Progenetix resource.
2 changes: 1 addition & 1 deletion docs/news/2021-12-22-cnv-ontology-proposal-note.md
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Everybody is welcome to contribute to the editing of the proposal at the SO & VRS Github repositories!


#### 2021-01-21: `copy number assessment` term tree now [live on EFO](http://www.ebi.ac.uk/efo/EFO_0030063)
#### 2021-01-21: `copy number assessment` term tree now [live on EFO](https://www.ebi.ac.uk/efo/EFO_0030063)

The `copy number assessment` term tree has been accepted into the Experimental Factor Ontology and can be used for referencing CNV types.

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4 changes: 2 additions & 2 deletions docs/news/2023-12-14-Paris-Medecine.md
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pdf_file_name:
links:
- '[Seminar slides](/pdf/2023-12-14___Michael-Baudis__Beaconize-This__Seminar-Institut-Imagine-Paris.pdf)'
- "[Progenetix cancer genomics resource](http://progenetix.org)"
- "[Progenetix cancer genomics resource](https://progenetix.org)"
- '[`bycon` software project](https://github.com/progenetix/bycon/)'
- "[Beacon documentation](http://docs.genomebeacons.org)"
- "[Beacon documentation](https://docs.genomebeacons.org)"
- '[ELIXIR hCNV Community](https://cnvar.org)'
---

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