In2Genome

Plan and define training strategies and methods for the implementation of ELSIE in CHUC and for the process of exome sequencing.

Determination of the data processing protocol in ELSIE.

— Reached

Establishment of standardized processes for the sequencing and analysis of exomes.

— Reached

Establishment of a sample management platform.

— Reached

Identify and characterize the groups of pathologies of interest to be studied within the scope of the project. Prepare the recruitment protocol and the informed consent form. Define the Standard Operating Procedure for the diagnostic of genetic diseases.

Elaboration of the Standard Operating Procedure for the diagnosis of genetic diseases.

— Reached

Establishment of the recruitment protocol.

— Reached

Preparation of the informed consent form for participation in the project.

— Reached

Develop the sequencing order processing structure through Elsie for use in the CHUC Medical Genetics Service, according to the needs identified with the medical team.

Implementation of the genetic analysis tool of family trios at ELSIE.

— Reached

Implementation of the new Genome Queries at ELSIE.

— Reached

Identify, develop and implement new tools to improve the variant analysis.

Efficient and standardized system for creating genetic information of individual variations from exomes, usable for targeted genetic diagnostic or open research.

— Reached

Exome data sequencing and analysis of the patients in the control group.

Implement and test the Standard Operation Protocol for the diagnostic of genetic diseases.

Implement and test the Data Processing Protocol at Elsie.

Performing a proof of concept of the new approach to the diagnostic of genetic diseases by exome sequencing.

— Reached

Evaluate the new approach to the diagnostic of genetic diseases by comparison the results obtained with the traditional approach.

Review and identification of points of improvement in the new approach to the diagnostic of genetic diseases.

— Reached

Test and evaluate the developed approach for the diagnostic of genetic diseases in new patients.

Establishment of standardized and validated processes for exome sequencing and analysis.

— Reached

Establishment of operational protocols for the diagnostic of genetic diseases and for data processing in ELSIE platform.

— Reached

Disclosure and dissemination of obtained results within the scope of the project (transversal to all copromotors).

Participation in national and international scientific meetings and organization of a workshop to disseminate results.

— Reached

Manage the project throughout the entire project (transversal to all copromotors).

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