The rules of Submit New
Work flow
First of all, you need to select a three-dimensional genome related disease, and accumulate a certain amount of knowledge of the disease (choosing a three-dimensional genome related diseases from paper reading is recommended, and use workflow to describe the disease.)
Diseases:
According to ICD-11, select the related diseases’ name.
Another name:
According to ICD-11 or ICD-10’s another name.
Short name:
According to ICD-11 or ICD-10 or OMIM’s short name.
ICD-10 code:
Open the ICD-10 website, search the name of the disease, find the code.
ICD-11 code:
Open the ICD-10 website, search the name of the disease, find the code.
OMIM ID:
Open OMIM website, search related diseases and find OMIM corresponding to diseases.
Variation position:
Open OMIM website, search related diseases, find mutation’s location.
Ref genome:
Hg19/hg38
Associate type:
Understand the related diseases and determine which of the following types of variation occurs:
- 1D: SNP, or only the genome sequence changed;
- 2D: Only epigenetic modifications (methylation, acetylation, etc.) occurred;
- 1D & 2D: Both genome sequence and epigenetic modifications changed;
- 2D & 3D: Epigenetic modification and three-dimensional structure of genome changed;
- 1D & 2D & 3D: Genome sequence, epigenetic modification and three-dimensional structure of genome changed.
Genetic epigenetic alteration:
If there is any change in epigenetic modification, please write down the type of epigenetic modification.
Type:
Please choose one of cis or trans according to the following introduction about cis and trans:
cis: The change of genome sequence information is the essential cause of diseaseTrans: the essential reason for diseases is that the structure of three-dimensional genome changes due to regulatory elements or epigenetic modification’s abnormal.
Disease related gene:
Genes in cis and trans, and their related genes (the occurrence of a three-dimensional genome related disease usually involves more than one gene).
Brief introduction of disease related gene:
Briefly describe the function of this or these genes (or attach a link, it is not clear which website is the introduction of the corresponding gene).
Pathogenesis mechanism:
Briefly describe the mechanism of the disease.
Ref doi:
The format has not been unified.
The related topic mentioned is the study of diseases
In the process of paper reading, record the diseases related to three-dimensional genome, but have not been carefully studied.
Other perspectives
ICD: international Classification of diseasesICD-10: https://icd.who.int/browse10/2019/en#/Q99.2ICD-11: https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/2132180242OMIM ID: https://www.omim.org/entry/300624