שכיחות מוטציות באוכלוסיה הישראלית בהתאם למחלה ולקבוצה אתנית

השכיחות חושבה על פי הסינון למחלה וקבוצה אתנית - מספר האללים לכל מוטציה חולק במספר האללים הכללי על פי הסינון

Prevalence of mutations in the Israeli population according to disease and ethnic group

Prevalence was calculated according to the screening for disease and ethnic group - the number of alleles for each mutation was divided by the total number of alleles according to the screening.

Explanation about the calculator:

Within the framework of the Israeli Consortium for the Study of Genetic Retinal Diseases, a unique project was carried out, which aims to map the genetic mutations associated with hereditary retinal diseases among the population in Israel, while distinguishing between different ethnic groups and communities.

The extensive information collected has been uploaded here and is accessible to all.

 

The system presents two main panels:

  1. In the first panel, you can select an ethnic group (such as: Muslims, Druze, Jews of Iraqi origin, Ashkenazi, etc.) and then select the type of disease. The result is a list of genetic mutations that correspond to the chosen community and disease, including their prevalence in the population.
  2. In the second panel, you can start from the opposite direction – select a specific gene and then a disease, and receive a list of ethnic groups in which the relevant mutations are present, with their relative prevalence.


The system can calculate in real time the frequency of mutations according to any possible combination of gene, disease and origin – which allows for a flexible and focused search, and assists in planning personalized genetic counseling.

 

For questions and additional information, you can contact Sapir Shalom by email:

sapirsha8@gmail.com