Some Topics to be covered: |
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Variants in the genome, position & possible consequences NGS: what method to apply (gene panel, WES or WGS) and where technology fails NGS limitations: sequencing technologies / calling variants (SNV+CNV+SV) CNV calling/ analysis: applications and challenges SNV calling/ analysis: applications and challenges HGVS Nomenclature; describing variants Human Phenotype Ontology (HPO) Integration of phenotypic and genomic data to diagnose patients with rare diseases Ensembl Genome Browser UCSC Genome Browser & more... | 