Class: Study¶
A scientific study, i.e. a unit of research, within which experiments and/or analyses have been carried out.
URI: https://w3id.org/fga-wg/schema/bundle/Study
classDiagram
class Study
click Study href "../Study/"
Study : project_external_ref
Study : project_name
Study : publications
Study : study_abstract
Study : study_contact
Study --> "0..1" Contact : study_contact
click Contact href "../Contact/"
Study : study_external_id
Study : study_id
Study : study_title
Example¶
Example JSON
{
"project_external_ref": "bioproject:PRJNA63441",
"publications": [
"https://doi.org/10.1038/s41467-020-14743-w"
],
"study_abstract": "ENCODE comprises thousands of functional genomics datasets, and the encyclopedia covers hundreds of cell types, providing a universal annotation for genome interpretation. However, for particular applications, it may be advantageous to use a customized annotation. Here, we develop such a custom annotation by leveraging advanced assays, such as eCLIP, Hi-C, and whole-genome STARR-seq on a number of data-rich ENCODE cell types. A key aspect of this annotation is comprehensive and experimentally derived networks of both transcription factors and RNA-binding proteins (TFs and RBPs). Cancer, a disease of system-wide dysregulation, is an ideal application for such a network-based annotation. Specifically, for cancer-associated cell types, we put regulators into hierarchies and measure their network change (rewiring) during oncogenesis. We also extensively survey TF-RBP crosstalk, highlighting how SUB1, a previously uncharacterized RBP, drives aberrant tumor expression and amplifies the effect of MYC, a well-known oncogenic TF. Furthermore, we show how our annotation allows us to place oncogenic transformations in the context of a broad cell space; here, many normal-to-tumor transitions move towards a stem-like state, while oncogene knockdowns show an opposing trend. Finally, we organize the resource into a coherent workflow to prioritize key elements and variants, in addition to regulators. We showcase the application of this prioritization to somatic burdening, cancer differential expression and GWAS. Targeted validations of the prioritized regulators, elements and variants using siRNA knockdowns, CRISPR-based editing, and luciferase assays demonstrate the value of the ENCODE resource.",
"study_contact": {
"contact_id": "orcid:0000-0002-9746-3719",
"email": "mark@gersteinlab.org",
"name": "Mark Gerstein"
},
"study_external_id": "biostudies:S-EPMC7391744",
"study_id": "study:S-EPMC7391744",
"study_title": "An integrative ENCODE resource for cancer genomics"
}
Slots¶
| Name | Cardinality and Range | Description | Inheritance |
|---|---|---|---|
| study_external_id | 0..1 Curie |
External, globally unique identifier for the study (preferably a BioStudies CURIE). | direct |
| study_id | 1 Curie |
Internal identifier for the study (unique within the metadata deposit). Namespace: "study". | direct |
| study_title | 1 String |
Title of the study. | direct |
| study_abstract | 0..1 String |
Abstract of the study. | direct |
| project_external_ref | 0..1 Uriorcurie |
Reference to a project within which the study was carried out (preferably a BioProject CURIE). | direct |
| project_name | 0..1 String |
Name of the project within which the study was carried out. | direct |
| publications | * Curie |
List of (relevant) publications containing the results of the study (in the form of DOI CURIEs). | direct |
| study_contact | 0..1 Contact |
Contact point for the study. | direct |
Usages¶
| used by | used in | type | used |
|---|---|---|---|
| Bundle | studies | range | Study |
Identifier and Mapping Information¶
Schema Source¶
- from schema: https://w3id.org/fga-wg/schema/bundle
Mappings¶
| Mapping Type | Mapped Value |
|---|---|
| self | https://w3id.org/fga-wg/schema/bundle/Study |
| native | https://w3id.org/fga-wg/schema/bundle/Study |
LinkML Source¶
Direct¶
name: Study
description: A scientific study, i.e. a unit of research, within which experiments
and/or analyses have been carried out.
from_schema: https://w3id.org/fga-wg/schema/bundle
slots:
- study_external_id
- study_id
- study_title
- study_abstract
- project_external_ref
- project_name
- publications
- study_contact
Induced¶
name: Study
description: A scientific study, i.e. a unit of research, within which experiments
and/or analyses have been carried out.
from_schema: https://w3id.org/fga-wg/schema/bundle
attributes:
study_external_id:
name: study_external_id
description: External, globally unique identifier for the study (preferably a
BioStudies CURIE).
examples:
- value: biostudies:S-EPMC7391744
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: curie
study_id:
name: study_id
description: 'Internal identifier for the study (unique within the metadata deposit).
Namespace: "study".'
examples:
- value: study:S-EPMC7391744
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
identifier: true
owner: Study
domain_of:
- Study
range: curie
required: true
study_title:
name: study_title
description: Title of the study.
examples:
- value: An integrative ENCODE resource for cancer genomics
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: string
required: true
study_abstract:
name: study_abstract
description: Abstract of the study.
examples:
- value: ENCODE comprises thousands of functional genomics datasets, and the encyclopedia
covers hundreds of cell types, providing a universal annotation for genome
interpretation. However, for particular applications, it may be advantageous
to use a customized annotation. Here, we develop such a custom annotation
by leveraging advanced assays, such as eCLIP, Hi-C, and whole-genome STARR-seq
on a number of data-rich ENCODE cell types. A key aspect of this annotation
is comprehensive and experimentally derived networks of both transcription
factors and RNA-binding proteins (TFs and RBPs). Cancer, a disease of system-wide
dysregulation, is an ideal application for such a network-based annotation.
Specifically, for cancer-associated cell types, we put regulators into hierarchies
and measure their network change (rewiring) during oncogenesis. We also extensively
survey TF-RBP crosstalk, highlighting how SUB1, a previously uncharacterized
RBP, drives aberrant tumor expression and amplifies the effect of MYC, a well-known
oncogenic TF. Furthermore, we show how our annotation allows us to place oncogenic
transformations in the context of a broad cell space; here, many normal-to-tumor
transitions move towards a stem-like state, while oncogene knockdowns show
an opposing trend. Finally, we organize the resource into a coherent workflow
to prioritize key elements and variants, in addition to regulators. We showcase
the application of this prioritization to somatic burdening, cancer differential
expression and GWAS. Targeted validations of the prioritized regulators, elements
and variants using siRNA knockdowns, CRISPR-based editing, and luciferase
assays demonstrate the value of the ENCODE resource.
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: string
project_external_ref:
name: project_external_ref
description: Reference to a project within which the study was carried out (preferably
a BioProject CURIE).
examples:
- value: bioproject:PRJNA63441
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: uriorcurie
project_name:
name: project_name
description: Name of the project within which the study was carried out.
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: string
publications:
name: publications
description: List of (relevant) publications containing the results of the study
(in the form of DOI CURIEs).
examples:
- value: https://doi.org/10.1038/s41467-020-14743-w
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: curie
multivalued: true
study_contact:
name: study_contact
description: Contact point for the study.
examples:
- object:
name: Mark Gerstein
contact_id: orcid:0000-0002-9746-3719
email: mark@gersteinlab.org
from_schema: https://w3id.org/fga-wg/schema/bundle
rank: 1000
owner: Study
domain_of:
- Study
range: Contact