Seminar: Aleksandra Pfeifer
Aleksandra Pfeifer gave a talk at a departmental seminar entitled „Whole-genome sequencing analysis in families with facioscapulohumeral muscular dystrophy: preliminary identification of disease-related variants”.
She provided an overview of facioscapulohumeral muscular dystrophy (FSHD), a rare inherited disorder with an estimated prevalence of approximately 1 in 20,000 individuals, and discussed its genetic basis. She then explained the basic patterns of inheritance and outlined the principles of trio NGS analysis, which involves the genetic analysis of an affected child and both parents.
She also presented a workflow for next-generation sequencing (NGS) data analysis, with particular emphasis on variant detection using the DeepVariant method. In addition, preliminary results from the analysis of whole-genome sequencing data obtained from members of FSHD-affected families were presented. The aim of the study is to identify genetic factors that influence the course of the disease.
