Medical School
Twin Cities
Though traditional short-read Next Generation Sequencing (NGS) has revolutionized genomics and genetic testing, there is no single genetic test that can accurately evaluate the full spectrum of complex structural variants (SV) and repetitive genomic alterations. Short-read NGS limited in its ability to identify complex structural variants, but it also cannot accurately map reads for numerous genes with highly homologous pseudogenes. This project aims to assess the clinical utility of long-read sequencing as single comprehensive diagnostic genetic test capable of detecting single nucleotide variants (SNVs), small insertions and deletions (indels), and genomic alterations known to be difficult to detect using NGS. These researchers hypothesize that utilizing long read sequencing will significantly increase the diagnostic yield for patients with repeat expansions and complex SVs while reducing the cost and turnaround time associated with testing.