Precise break point mapping of balanced reciprocal translocation cases using long-read sequencing

Why is it important to characterise chromosomal translocation breakpoints? Usha explains how it leads to causative or candidate gene identification.

Usha explained two clinical cases where nanopore long sequencing reads resolved translocation breakpoints at higher resolution and in much less time than FISH.

Usha concluded with the advantages of using nanopore sequencing to investigate BRTs: bioinformatics knowledge is not required; identification of repetitive regions is possible; and real-time nanopore sequencing provides a time-saving advantage.

Usha: This is the 1st report from India where nanopore sequencing was successfully used to delineate balanced reciprocal translocations.