Vitus Prokosch

ACMG/AMP American College of Medical Genetics and Genomics/Association for Molecular Pathology AI Artificial intelligence APC (gene, protein) Adenomatous polyposis coli ATM (gene, protein) Ataxia telangiectasia mutated BRCA1 (gene, protein) Breast cancer gene 1 BRCA2 (gene, protein) Breast cancer gene 2 BS3 Benign Strong criterion 3 (ACMG/AMP) Cas9 CRSPR associated protein 9 cDNA Complementary DNA CHEK2 (gene, protein) Checkpoint kinase 2 CNV Copy-number variant CRISPR Clustered Regularly...

Abstract Hereditary ataxias, caused by expansions of short tandem repeats, are difficult to diagnose using traditional PCR and Southern blot methods, which struggle to detect complex repeat expansions and cannot assess repeat interruptions or methylation. We present an updated Clinical Nanopore Cas9-Targeted Sequencing (Clin-CATS) workflow for analyzing repeat expansions, now compatible with the Oxford Nanopore Technologies R10 flow cell.