Systematic microsatellite repeat expansion cloning and validation

We describe methods to validate repeat expansion cloning, including diagnostic restriction digestion, PCR across the repeat, and next-generation long-read MinION nanopore sequencing. Validated cloning of microsatellite repeats beyond the critical expansion threshold can facilitate step-by-step characterization of disease mechanisms at the cellular and molecular level.
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research