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+++ b/paper/paper.md
@@ -1,8 +1,9 @@
---
-title: 'Public Sequence Resource for COVID-19'
+title: 'CPSR: COVID-19 Public Sequence Resource'
+title_short: 'CPSR: COVID-19 Public Sequence Resource'
tags:
- Sequencing
- - COVID
+ - COVID-19
authors:
- name: Pjotr Prins
orcid: 0000-0002-8021-9162
@@ -25,10 +26,21 @@ authors:
- name: Rutger Vos
orcid: 0000
affiliation: 7
- - Michael Heuer
- orcid: 0000
+ - name: Michael Heuer
+ orcid: 0000-0002-9052-6000
affiliation: 8
-
+ - name: Adam M Novak
+ orcid: 0000-0001-5828-047X
+ affiliation: 5
+ - name: Alex Kanitz
+ orcid: 0000
+ affiliation: 10
+ - name: Jerven Bolleman
+ orcid: 0000
+ affiliation: 11
+ - name: Joep de Ligt
+ orcid: 0000
+ affiliation: 12
affiliations:
- name: Department of Genetics, Genomics and Informatics, The University of Tennessee Health Science Center, Memphis, TN, USA.
index: 1
@@ -36,7 +48,14 @@ affiliations:
index: 2
- name: Department of Computer Science, Faculty of Sciences, Vrije Universiteit Amsterdam, The Netherlands
index: 6
+ - name: RISE Lab, University of California Berkeley, Berkeley, CA, USA.
+ index: 8
+ - name: UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA 95064, USA.
+ index: 5
date: 11 April 2020
+event: COVID2020
+group: Public Sequence Uploader
+authors_short: Pjotr Prins & Peter Amstutz \emph{et al.}
bibliography: paper.bib
---
@@ -51,13 +70,48 @@ pasting above link (or yours) with
https://github.com/biohackrxiv/bhxiv-gen-pdf
+Note that author order will change!
+
-->
# Introduction
-As part of the one week COVID-19 Biohackathion 2020, we formed a
-working group on creating a public sequence resource for Corona virus.
-
+As part of the COVID-19 Biohackathion 2020 we formed a working
+group to create a COVID-19 Public Sequence Resource (CPSR) for
+Corona virus sequences. The general idea was to create a
+repository that has a low barrier to entry for uploading sequence
+data using best practices. I.e., data published with a creative
+commons 4.0 (CC-4.0) license with metadata using state-of-the art
+standards and, perhaps most importantly, providing standardized
+workflows that get triggered on upload, so that results are
+immediately available in standardized data formats.
+
+Existing data repositories for viral data include GISAID, EBI ENA
+and NCBI. These repositories allow for free sharing of data, but
+do not add value in terms of running immediate
+computations. Also, GISAID, at this point, has the most complete
+collection of genetic sequence data of influenza viruses and
+related clinical and epidemiological data through its
+database. But, due to a restricted license, data submitted to
+GISAID can not be used for online web services and on-the-fly
+computation. In addition GISAID registration which can take weeks
+and, painfully, forces users to download sequences one at a time
+to do any type of analysis. In our opinion this does not fit a
+pandemic scenario where fast turnaround times are key and data
+analysis has to be agile.
+
+We managed to create a useful sequence uploader utility within
+one week by leveraging existing technologies, such as the Arvados
+Cloud platform [@Arvados], the Common Workflow Langauge (CWL)
+[@CWL], Docker images built with Debian packages, and the many
+free and open source software packages that are available for
+bioinformatics.
+
+The source code for the CLI uploader and web uploader can be
+found [here](https://github.com/arvados/bh20-seq-resource)
+(FIXME: we'll have a full page). The CWL workflow definitions can
+be found [here](https://github.com/hpobio-lab/viral-analysis) and
+on CWL hub (FIXME).
<!--
@@ -75,38 +129,98 @@ working group on creating a public sequence resource for Corona virus.
## Cloud computing backend
-Peter, Pjotr, MichaelC
-
-## A command-line sequence uploader
+The development of CPSR was accelerated by using the Arvados
+Cloud platform. Arvados is an open source platform for managing,
+processing, and sharing genomic and other large scientific and
+biomedical data. The Arvados instance was deployed on Amazon AWS
+for testing and development and a project was created that
+allows for uploading data.
-Peter, Pjotr
+## Sequence uploader
-## Metadata uploader
+We wrote a Python-based uploader that authenticates with Arvados
+using a token. Data gets validated for being a FASTA sequence,
+FASTQ raw data and/or metadata in the form of JSON LD that gets
+validated against a schema. The uploader can be used
+from a command line or using a simple web interface.
-With Thomas
+## Creating a Pangenome
-## FASTA to GFA workflow
+### FASTA to GFA workflow
-Michael Heuer
+The first workflow (1) we implemented was a FASTA to Graphical
+Fragment Assembly (GFA) Format conversion. When someone uploads a
+sequence in FASTA format it gets combined with all known viral
+sequences in our storage to generate a pangenome or variation
+graph (VG). The full pangenome is made available as a
+downloadable GFA file together with a visualisation (Figure 1).
-## BAM to GFA workflow
+### FASTQ to GFA workflow
-Tazro & Erik
+In the next step we introduced a workflow (2) that takes raw
+sequence data in fastq format and converts that into FASTA.
+This FASTA file, in turn, gets fed to workflow (1) to generate
+the pangenome.
-## Phylogeny app
+## Creating linked data workflow
-With Rutger
+We created a workflow (3) that takes GFA and turns that into
+RDF. Together with the metadata at upload time a single RDF
+resource is compiled that can be linked against external
+resources such as Uniprot and Wikidata. The generated RDF file
+can be hosted in any triple store and queried using SPARQL.
-## RDF app
+## Creating a Phylogeny workflow
-Jerven?
+WIP
-## EBI app
-
-?
+## Other workflows?
# Discussion
-Future work...
+CPSR is a data repository with computational pipelines that will
+persist during pandemics. Unlike other data repositories for
+Sars-COV-2 we created a repository that immediately computes the
+pangenome of all available data and presents that in useful
+formats for futher analysis, including visualisations, GFA and
+RDF. Code and data are available and written using best practises
+and state-of-the-art standards. CPSR can be deployed by anyone,
+anywhere.
+
+CPSR is designed to abide by FAIR data principles (expand...)
+
+CPSR is primed with viral data coming from repositories that have
+no sharing restrictions. The metadata includes relevant
+attribution to uploaders. Some institutes have already committed
+to uploading their data to CPSR first so as to warrant sharing
+for computation.
+
+CPSR is currently running on an Arvados cluster in the cloud. To
+ascertain the service remains running we will source money from
+project during pandemics. The workflows are written in CWL which
+means they can be deployed on any infrastructure that runs
+CWL. One of the advantages of the CC-4.0 license is that we make
+available all uploaded sequence and meta data, as well as
+results, online to anyone. So the data can be mirrored by any
+party. This guarantees the data will live on.
+
+<!-- Future work... -->
+
+We aim to add more workflows to CPSR, for example to prepare
+sequence data for submitting in other public repositories, such
+as EBI ENA and GISAID. This will allow researchers to share data
+in multiple systems without pain, circumventing current sharing
+restrictions.
+
+# Acknowledgements
+
+We thank the COVID-19 BioHackathon 2020 and ELIXIR for creating a
+unique event that triggered many collaborations. We thank Curii
+Corporation for their financial support for creating and running
+Arvados instances. We thank Amazon AWS for their financial
+support to run COVID-19 workflows. We also want to thank the
+other working groups in the BioHackathon who generously
+contributed onthologies, workflows and software.
+
# References