Clinical Bioinformatics - Coding Variants
Course Materials Data Course Materials Web tools VEP SpliceAI GTEx Enrichr PanelApp Case 1 Clinical profile The case we present first, has a pedigree as follows: The proband is the individual III-38 and he’s been diagnosed with epilepsy, intellectual disability, speech delay, progressive gait deterioration. Download the data Please use the link provided above to download the VCF file, originated from an NGS carried out on the proband....