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| How to Submit Multi-Omic Cohort Datasets | ||
| ======================================== | ||
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| This guide includes information about how to submit a multi-omic dataset to be displayed as an entry in the `Pathogens | ||
| Portal Cohort browser <https://www.pathogensportal.org/cohorts?activeTab=Browser>`_. | ||
| If you have a multi-omic dataset you wish to archive, but it is not linked to Pathogens, similar principles will apply, | ||
| but the dataset will not be displayed in the Pathogens Portal. | ||
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| Introduction | ||
| ```````````` | ||
| Infectious disease plays out as an intricate set of molecular interactions between the systems of both pathogen and infected host. | ||
| In cases of vector-borne disease, such as malaria, or diseases with intermediate hosts, such as tapeworm, interactions with further | ||
| species are involved. Studying these interconnected biologies, such as to understand infection mechanisms and patient response, | ||
| develop clinical and public health interventions and predict outcomes of the circulation of new pathogen variants, requires the use | ||
| of combined data sets which span the two or more organisms involved in the infection. | ||
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| Regardless of which technical platform is used for their generation, biological data can be organised around the concept of sample. | ||
| A biological sample, such as a blood sample from a patient, can be represented as a digital record with an identifier. When the | ||
| sample is subjected to different assays, such as genomic sequencing or serology analysis, each of the resultant data sets can | ||
| reference the identifier of the sample from which they were derived. In many workflows, samples are divided, such as when a | ||
| wastewater sample is size-filtered to yield a bacterial subsample and a viral subsample. Records for each of these new samples | ||
| can be created and given their own identifiers, and reference can be made back to the sample from which they were derived by using | ||
| its top-level sample identifier. | ||
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| For example, in this diagram example, the top-level sample (#1) is linked to various child samples which hold information | ||
| for data in multiple databases: | ||
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| .. image:: images/linked_samples.png | ||
| :width: 600 | ||
| :alt: diagram showing BioSample relationships and data types | ||
| :align: center | ||
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| Steps | ||
| ````` | ||
| The steps below provide an overview of creating a multi-omic dataset. Before starting a submission, we strongly advise | ||
| you to contact us at cohort-dataflow@ebi.ac.uk if you are planning to submit a linked cohort dataset, including some | ||
| details about your study, and we can give guidance on your sample structure, and how to complete the data submissions. | ||
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| 1. Create the top-level BioSample | ||
| ''''''''''''''''''''''''''''''''' | ||
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| The first step is to create top-level Samples using the `BioSamples Archive <https://www.ebi.ac.uk/biosamples/>`_. | ||
| These Samples will represent each case or patient in the study. This is represented by Sample #1 in the diagram. | ||
| If this is a human sample, this can contain minimal, non-identifying metadata about the patient (e.g. gender, | ||
| organism, disease). See an example `here <https://www.ebi.ac.uk/biosamples/samples/SAMEA12928716>`_. | ||
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| Top-level Sample records can be created in BioSamples using the `BioSamples uploader tool <https://www.ebi.ac.uk/biosamples/docs/cookbook/upload_files>`_. | ||
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| .. note :: | ||
| The ENA and the `EGA (European Genome Phenome Archive) <https://ega-archive.org/>`_ are the only archives which integrate | ||
| BioSample records into their :doc:`database structure <submit/general-guide/metadata>`. For data deposited at other | ||
| archives, additional BioSample records may need to be created (in BioSamples) to represent those data. | ||
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| 2. Submit Pathogen Sequence data to the ENA | ||
| ''''''''''''''''''''''''''''''''''''''''''' | ||
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| The next step is to submit your nucleotide records (raw reads or assembly data) to the ENA. | ||
| The :doc:`Pathogen Submissions Guide <faq/pathogen-subs-guide>` provides a quick introduction to the ENA and tips for | ||
| Pathogen data submissions. | ||
| Otherwise, please refer to the :doc:`ENA General Submissions Guide <../submit/general-guide>`. | ||
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| 3. Submit other data types to appropriate database resources | ||
| '''''''''''''''''''''''''''''''''''''''''''''''''''''''''''' | ||
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| The next step is to create your datasets in the correct database for the data type. The `EBI submissions wizard | ||
| <https://www.ebi.ac.uk/submission/>`_ can help direct you to a resource to deposit your data. | ||
| We can reccommend the following database resources for common data types: | ||
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| - For sensitive human nucleotide records and human clinical epidemiological data which requires controlled access, please | ||
| contact the `EGA (European Genome Phenome Archive) <https://ega-archive.org/>`_ to start a submission. | ||
| - For expression data, or uncategorsied datasets, please use `ArrayExpress/BioStudies <https://www.ebi.ac.uk/biostudies/arrayexpress>`_ | ||
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| 4. Create the child BioSamples for linking | ||
| '''''''''''''''''''''''''''''''''''''''''' | ||
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| After the datasets have been submitted in the appropriate databases, the required child Samples for linking can be created. | ||
| The child samples will represent their relationship to the top-level Sample. Different samples can be used for different | ||
| data types **and** for different time points. Please contact us if you have any doubts about setting up your sample structure. | ||
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| 5. Link together the samples using BioSamples | ||
| '''''''''''''''''''''''''''''''''''''''''''''' | ||
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| Link your samples created from other EBI resources to the top-level sample using a | ||
| `BioSamples derived from curation <https://www.ebi.ac.uk/biosamples/docs/references/api/submit#_submit_curation_object> `_. | ||
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| Link your samples created from other EBI resources to the top-level sample using the ‘derived from’ curation on | ||
| BioSamples. The derived from relationship is used as follows, where the Source is the child Sample, and the Target is | ||
| the top-level Sample: | ||
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| **Source sample** - *derived from* - **Target sample** | ||
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| **Child sample accession** - *derived from* - **Parent sample accession** | ||
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| For example, in the first linked dataset, the `Erasmus Medical Cemter (EMC) study <https://www.infectious-diseases-toolkit.org/showcase/linked-cohort-data>`_, | ||
| the BioSamples relationship is as follows: | ||
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| **[T/B-Cell/Antibody profile/ENA viral sample accession]** - *derived from* - **[Top level patient sample accession]** | ||
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| A JSON file curation object (see example below) containing the relationship attribute with the source and target sample | ||
| can be created and submitted via curl to the `BioSamples API <https://www.ebi.ac.uk/biosamples/docs/references/api/submit#_submit_curation_object>`_) | ||
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| JSON curation: | ||
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| .. code-block:: JSON | ||
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| { | ||
| "curation" : { | ||
| "relationshipsPre" : [ ], | ||
| "relationshipsPost" : [ { | ||
| "source" : "SAMFAKE123456", | ||
| "type" : "DERIVED_FROM", | ||
| "target" : "SAMFAKE7654321" | ||
| } ], | ||
| "hash" : "09a5a9cddbea9f5bb6302b86b922c408abc92b8b10c78f0662ac7e41fd44e91f" | ||
| }, | ||
| "domain" : null, | ||
| "webinSubmissionAccountId" : "WEBIN-12345", | ||
| "created" : "2023-07-17T12:19:33.056356Z", | ||
| "hash" : "d1f611ec2c8caf3d9f58fa40227ea60ebb5fc00eda06338fb81db7d987a6fa63" | ||
| } | ||
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| .. | ||
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| Please contact ena-path-collabs@ebi.ac.uk for technical support with any questions related to sample | ||
| linking using BioSamples. | ||
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| 6. Submit the cohort metadata | ||
| ''''''''''''''''''''''''''''' | ||
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| While the BioSamples database is key to capturing the linking of data types on participant level, the | ||
| `Cohort Browser <https://www.pathogensportal.org/cohorts>`_ presents a range of study-level information about each cohort. | ||
| This metadata is an integral part of the Pathogens Portal, enhancing the findability of a cohort dataset, and this serves | ||
| as the primary entry point into the dataset. The included data types in the dataset will be represented by the | ||
| 'Type of data' column within the cohort browser. | ||
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| For your cohort to display within a cohort browser, please contact us to check which metadata will be needed for your dataset. | ||
| As a guide, the following information will be needed to describe the cohort: | ||
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| - Cohort acronym/link to webpage | ||
| - Cohort title | ||
| - Cohort/study description | ||
| - Institution | ||
| - Number of participants | ||
| - Territory/country | ||
| - Enrollment period | ||
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| Please find the form `here <https://docs.google.com/spreadsheets/d/1LuyPhv1J5t2FU7JE2XjW9n__PjGTxeBoA38PXpN8sG8/edit#gid=0>`_ | ||
| for a more complete version of the suggested metadata. Please get in touch with us using cohort-dataflow@ebi.ac.uk if you | ||
| would like to add your cohort metadata to the Pathogens Portal Cohort Browser. | ||
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