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Methods in the Process of Re-evaluation of Variants in Cardiomyopathy

Scholten, Bart (2021) Methods in the Process of Re-evaluation of Variants in Cardiomyopathy. Research Project 1, Biomedical Sciences.

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Cardiomyopathy is a heart disease which affect individuals mostly by genetic causes. These mutation needs to be classified. In last years, major changes are made in the classification process. Therefore re-evaluation is necessary. This is already done however, there is no clear structure of the methods, procedures and selection process. This paper provides common methods that are used and also give an advice which structure should be used. Four stages are described: Genetic analysis, Selection process, data collection and clinical translation. Genetic analysis is done in two ways: A disease specific gene panel or whole-exome sequencing. Selection is currently based on the exclusion of mutation which are classified as benign and an allele frequency above 1%. Also, there is an exclusion of individuals which have an incomplete phenotype. Two other possible ways are based on prioritisation of mutations that were classified before 2015 and missense mutations. Data collection is of three different sets of data: population data, functional data and predictive data. Population data is retrieved via GnomAD database, functional data is found using PubMed or by a research in their own laboratories. Predictive data is acquired by multiple lines of evidence on the level of gene, protein and splicing. Clinical translation has a problem in the explanation of the effect of a reclassification. Individuals which have a downgrade sometimes stop with their medication.

Item Type: Thesis (Research Project 1)
Supervisor name: Jongbloed, J.D.H.
Degree programme: Biomedical Sciences
Thesis type: Research Project 1
Language: English
Date Deposited: 09 Sep 2021 11:40
Last Modified: 09 Sep 2021 11:40

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