Geneticists’ Training Seminar on High-Throughput DNA Sequencing for Clinical Genetics and Pediatric Practice
From December 4 to December 15, 2022, a team of geneticists from the UMC CF underwent training at the Institute of Genetics named after Rafael Recanati, Rabin Medical Center (Beilinson Hospital), Israel.
🔹Theme of the on-site seminar: “Study of high-throughput DNA sequencing for genetically determined conditions in clinical genetics and pediatric practice.”
🔹During the seminar, the following were studied:
• Indications for high-throughput DNA sequencing (NGS) in pediatric practice
• Criteria for selecting patients for NGS
• Results of analyzes of whole-genome and whole-exome sequencing in patients with genetic diseases
• Pre-analytical and analytical stages of molecular genetic diagnostics using the method NGS
• Stages of DNA extraction, formation of a DNA library
• Stages of interpretation of the results of whole-genome and whole-exome sequencing analyzes in patients with genetic diseases
• Databases for determining the class of pathogenicity of mutations
• Criteria for the pathogenicity of mutations; variant of classification of mutations (pathogenic, benign, likely pathogenic, likely benign, variants of unknown significance)
• Preanalytical and analytical stages of molecular genetic diagnostics using chromosomal microarray analysis using Agilent and Affymetrix equipment (Thermo Fisher Scientific)
• Indications for chromosomal microarray analysis in pediatric practice.
🔹Trained in conducting bioinformation analysis using population databases with comparison of the phenotype with the research results obtained. Methodological recommendations were received for conducting scientific research on the introduction and implementation of genetic screenings for the early detection of SMA, DMD, and fragile X syndrome, and methodological recommendations were also received for training in the interpretation of whole-exome sequencing data.