Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion –deletion variant located in a region of complex genomic architecture

Massively parallel short-read “next generation” sequencing (NGS) has become the principal first-line screening approach for the molecular diagnosis of inherited disorders [1]. For genetically heterogeneous conditions, NGS permits concurrent (rather than consecutive) analysis of disease-associated genes. In Lynch syndrome (OM IM: 120435), an autosomal dominant disorder associated with predisposition to colorectal cancer, these include the DNA mismatch repair genes MSH2, MSH6, MLH1 and PMS2. The genomic targets for sequencing may be chosen using any of a small range of laboratory workflows.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Short Communication Source Type: research