Coordinator: Bruce Poppe
Teachers: Sofie Symoens & Annelies Dheedene
Location: UZ Gent campus, MRB2, entrance 38, campus UZ Gent.
• 9:30 – 10:30
Cytogenomic technologies for constitutional and acquired disorders: karyotyping, FISH, QF-PCR,
shallow whole genome sequencing and microarray (CGH and SNP), NIPT (Annelies)
• 15’ break
• 10:45 – 12:15
Gene panel analyses (targeted/customized gene panels) (Sofie)
Whole exome and whole genome sequencing (Annelies)
PGT-SR and PGT-A (Annelies)
PGT-M, coPGT, BeGECS and carrierships (Sofie)
• 45’ lunch
• 13:00 – 14:15
Variant classification for constitutional and acquired diseases (Sofie & Annelies)
• 15’ break
• 14:30 – 16:00
Educational cases and illustrations of genetic reports
• 15’ break
• 16:15 – 18:00
Exercises: interpreting and reporting genetic analyses
- How to write and read a clinical genetic report
- The student knows and is able to use in silico tools for genome analysis in clinical genetics.
- The student will learn the principles of variant classification
What you need to know before taking this course:
haploinsufficiency, dominant negative, gain-of-function, different types of variants
Handout:
Sources and extraction of RNA, DNA, protein, mitochondrial DNA, fibroblast culture, EBV, ..
- The basis of some techniques are illustrated with the aim to understand how already in these first stages certain mutations may be missed
- Types of variants that can be retrieved from exome/genome (e.g. SNV, CNV, other structural variation, microsatellites, …)
- nomenclature of variants (deletions, insertions, etc.)
o In silico
Databases
Genome Browser: ensembl and UCSC Protein structure databases
Mutation databases: Clinvar, LOVD, other databases Normal variation databases: gnomAD
Variant classification
ACMG rules for variant classification
In silico prediction programs
classification incorporating phenotypic information – HPO terminology
o In vivo: segregation analysis
Clinical databases
Orphanet, GeneReviews, OMIM, Pubmed, …
Data sharing: Decipher, Genematcher
o In vitro
Functional: splicing, structure of proteins